1-47650792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650792
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650792
    reference: chr 1
allele count: 22
allele frequency: 1.832508704416346e-4
allele num: 120054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-23C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-23C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-23C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.225C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12721
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7942
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-47650796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650796
    reference: chr 1
allele count: 2
allele frequency: 1.667027856035474e-5
allele num: 119974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.221A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-27A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-27A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-27A>G
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-47650802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650802
    reference: chr 1
allele count: 5
allele frequency: 4.17062876399246e-5
allele num: 119886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.215C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-33C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-33C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-33C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4865
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-47650803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650803
    reference: chr 1
allele count: 1
allele frequency: 8.342510094437214e-6
allele num: 119868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-34A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.214A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-34A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-34A>G
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 200
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3571
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-47650805-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650805
    reference: chr 1
allele count: 2
allele frequency: 1.66939334245935e-5
allele num: 119804
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-36C>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.212C>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-36C>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-36C>G
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17473
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7919
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4835
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-47650806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650806
    reference: chr 1
allele count: 20
allele frequency: 1.669588446447951e-4
allele num: 119790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-37C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.211C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-37C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-37C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16785
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7935
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-47650807-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650807
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650807
    reference: chr 1
allele count: 1
allele frequency: 8.354637659364713e-6
allele num: 119694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.210C>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-38C>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-38C>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-38C>A
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8345
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 412
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-47650813-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650813
    reference: chr 1
allele count: 1
allele frequency: 8.366800535475235e-6
allele num: 119520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-44G>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-44G>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.204G>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-44G>C
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7569
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-47650815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650815
    reference: chr 1
allele count: 7
allele frequency: 5.862351975612616e-5
allele num: 119406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-46G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-46G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-46G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.202G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11581
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7911
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7441
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

1-47650816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650816
    reference: chr 1
allele count: 29
allele frequency: 2.431865828092243e-4
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.201C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-47C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-47C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-47C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14718
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12518
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-47650821-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47650821
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47650821
    reference: chr 1
allele count: 15
allele frequency: 1.25997480050399e-4
allele num: 119050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000491793
  gene symbol: PDZK1IP1
  hgvsc: ENST00000491793.1:n.196T>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.177-52T>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-52T>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.177-52T>C
  variant of: http://identifiers.org/hgnc/16887
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12602
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4797
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-47652940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652940
    reference: chr 1
allele count: 1
allele frequency: 9.610025178265967e-6
allele num: 104058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2171T>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+51T>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+51T>C
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

1-47652943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652943
    reference: chr 1
allele count: 1
allele frequency: 9.619269320302431e-6
allele num: 103958
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+48C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+48C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2174C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-47652947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652947
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652947
    reference: chr 1
allele count: 1
allele frequency: 9.600430099268447e-6
allele num: 104162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2178G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+44G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+44G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
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genotype quality: GenotypeQuality
  all individuals: 13453
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

1-47652951-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652951
    reference: chr 1
allele count: 1
allele frequency: 9.572492485593399e-6
allele num: 104466
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+40C>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+40C>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2182C>G
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16198
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-47652954-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652954
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652954
    reference: chr 1
allele count: 7
allele frequency: 6.667301647775979e-5
allele num: 104990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2185G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+37G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+37G>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 274
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-47652956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652956
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652956
    reference: chr 1
allele count: 1
allele frequency: 9.493430546062126e-6
allele num: 105336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+35G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2187G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+35G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6260
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 21640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-47652960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652960
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652960
    reference: chr 1
allele count: 1
allele frequency: 9.421696282198648e-6
allele num: 106138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+31C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+31C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2191C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
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genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-47652963-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652963
    reference: chr 1
allele count: 1
allele frequency: 9.325922333718804e-6
allele num: 107228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+28A>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2194A>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+28A>C
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6118
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7226
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

1-47652968-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652967
    reference: chr 1
allele count: 1
allele frequency: 9.203696204395685e-6
allele num: 108652
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+22delC
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+22delC
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2200delC
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 150
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3761
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genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: AG
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-47652970-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652970
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652970
    reference: chr 1
allele count: 1
allele frequency: 9.147791723078049e-6
allele num: 109316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+21C>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+21C>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2201C>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2781
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-47652973-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652973
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652973
    reference: chr 1
allele count: 1
allele frequency: 9.06043308870164e-6
allele num: 110370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+18G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2204G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+18G>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/1-47652974-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652974
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652974
    reference: chr 1
allele count: 1
allele frequency: 9.036035710413128e-6
allele num: 110668
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+17G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2205G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+17G>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

1-47652981-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652981
    reference: chr 1
allele count: 1
allele frequency: 8.8467390919707e-6
allele num: 113036
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2212G>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+10G>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+10G>C
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-47652983-GCACT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652979
    reference: chr 1
allele count: 1
allele frequency: 8.802506953980493e-6
allele num: 113604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2218_143-2215delAGTG
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+4_176+7delAGTG
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+4_176+7delAGTG
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 2.75e1
  variant carriers: 0
hgvs: c.176+4_176+7delAGTG
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: GCACT
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

1-47652984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652984
    reference: chr 1
allele count: 1
allele frequency: 8.770852702299717e-6
allele num: 114014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+7G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+7G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2215G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40986
  bin: 6.25e1
  variant carriers: 0
hgvs: c.176+7G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

1-47652986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652986
    reference: chr 1
allele count: 1
allele frequency: 8.71368571478364e-6
allele num: 114762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+5G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2217G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+5G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 330
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 6.75e1
  variant carriers: 0
hgvs: c.176+5G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-47652987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652987
    reference: chr 1
allele count: 13
allele frequency: 1.130022078892926e-4
allele num: 115042
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+4A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+4A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2218A>G
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 6
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
hgvs: c.176+4A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

1-47652987-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652987
    reference: chr 1
allele count: 1
allele frequency: 8.692477529945585e-6
allele num: 115042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2218A>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+4A>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+4A>C
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 9.75e1
  variant carriers: 1
hgvs: c.176+4A>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-47652987-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652987
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652985
    reference: chr 1
allele count: 1
allele frequency: 8.692477529945585e-6
allele num: 115042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2220_143-2219delTG
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+2_176+3delTG
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+2_176+3delTG
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12642
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
hgvs: c.176+2_176+3delTG
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: TCA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-47652990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652990
    reference: chr 1
allele count: 7
allele frequency: 6.045322647505872e-5
allele num: 115792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176+1G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176+1G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2221G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36063
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
hgvs: c.176+1G>A
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-47652991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652991
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652991
    reference: chr 1
allele count: 1
allele frequency: 8.615936035290874e-6
allele num: 116064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2222C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.176C>T
  hgvsp: ENSP00000360952.1:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.176C>T
  hgvsp: ENSP00000294338.2:p.Pro59Leu
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro59Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-47652992-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652992
    reference: chr 1
allele count: 6
allele frequency: 5.158627805003869e-5
allele num: 116310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.175C>A
  hgvsp: ENSP00000294338.2:p.Pro59Thr
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2223C>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.175C>A
  hgvsp: ENSP00000360952.1:p.Pro59Thr
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13736
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4519
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro59Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

1-47652999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47652999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47652999
    reference: chr 1
allele count: 1
allele frequency: 8.504847763225038e-6
allele num: 117580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.168G>A
  hgvsp: ENST00000294338.2:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2230G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.168G>A
  hgvsp: ENST00000371885.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln56Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-47653001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653001
    reference: chr 1
allele count: 1
allele frequency: 8.491847826086957e-6
allele num: 117760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.166C>T
  hgvsp: ENSP00000360952.1:p.Gln56Ter
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2232C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.166C>T
  hgvsp: ENSP00000294338.2:p.Gln56Ter
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln56Ter
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

1-47653011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653011
    reference: chr 1
allele count: 6
allele frequency: 5.055356149840757e-5
allele num: 118686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.156C>T
  hgvsp: ENST00000294338.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.156C>T
  hgvsp: ENST00000371885.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2242C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His52His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-47653011-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653011
    reference: chr 1
allele count: 2
allele frequency: 1.685118716613585e-5
allele num: 118686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.156C>A
  hgvsp: ENSP00000360952.1:p.His52Gln
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.156C>A
  hgvsp: ENSP00000294338.2:p.His52Gln
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2242C>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His52Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-47653018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653018
    reference: chr 1
allele count: 1
allele frequency: 8.40463263350759e-6
allele num: 118982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.149T>C
  hgvsp: ENSP00000360952.1:p.Val50Ala
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.149T>C
  hgvsp: ENSP00000294338.2:p.Val50Ala
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2249T>C
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val50Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-47653028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653028
    reference: chr 1
allele count: 1
allele frequency: 8.387572971884856e-6
allele num: 119224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.139G>A
  hgvsp: ENSP00000360952.1:p.Ala47Thr
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.139G>A
  hgvsp: ENSP00000294338.2:p.Ala47Thr
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2259G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala47Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-47653029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653029
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653029
    reference: chr 1
allele count: 3
allele frequency: 2.515849854080709e-5
allele num: 119244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2260C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.138C>T
  hgvsp: ENST00000371885.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.138C>T
  hgvsp: ENST00000294338.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37965
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile46Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-47653037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653037
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653037
    reference: chr 1
allele count: 443
allele frequency: 3.71363903093302e-3
allele num: 119290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.130G>A
  hgvsp: ENSP00000360952.1:p.Val44Ile
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2268G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.130G>A
  hgvsp: ENSP00000294338.2:p.Val44Ile
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 37629
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15641
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 587
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4895
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 9.75e1
  variant carriers: 436
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48288
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Val44Ile
num of homozygotes: 2
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-47653038-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653038
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653038
    reference: chr 1
allele count: 2
allele frequency: 1.676474039799494e-5
allele num: 119298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2269C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.129C>T
  hgvsp: ENST00000371885.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.129C>T
  hgvsp: ENST00000294338.2:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15903
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48616
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu43Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-47653040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653040
    reference: chr 1
allele count: 1
allele frequency: 8.380965151946898e-6
allele num: 119318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.127C>T
  hgvsp: ENSP00000294338.2:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2271C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.127C>T
  hgvsp: ENSP00000360952.1:p.Leu43Phe
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48693
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu43Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

1-47653045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653045
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653045
    reference: chr 1
allele count: 3
allele frequency: 2.51407884151247e-5
allele num: 119328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.122T>C
  hgvsp: ENSP00000294338.2:p.Leu41Pro
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2276T>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.122T>C
  hgvsp: ENSP00000360952.1:p.Leu41Pro
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu41Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

1-47653052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653052
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653052
    reference: chr 1
allele count: 105
allele frequency: 8.802078967222734e-4
allele num: 119290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2283G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.115G>A
  hgvsp: ENSP00000294338.2:p.Val39Met
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.115G>A
  hgvsp: ENSP00000360952.1:p.Val39Met
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 16031
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37337
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 99
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1224
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 9.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val39Met
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-47653053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653053
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653053
    reference: chr 1
allele count: 2
allele frequency: 1.676530252988415e-5
allele num: 119294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.114C>T
  hgvsp: ENST00000371885.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.114C>T
  hgvsp: ENST00000294338.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2284C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16103
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala38Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-47653054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653054
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653054
    reference: chr 1
allele count: 1
allele frequency: 8.384056877441857e-6
allele num: 119274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.113C>T
  hgvsp: ENSP00000360952.1:p.Ala38Val
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2285C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.113C>T
  hgvsp: ENSP00000294338.2:p.Ala38Val
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 351
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48530
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala38Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-47653059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653059
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653059
    reference: chr 1
allele count: 38
allele frequency: 3.187865975403097e-4
allele num: 119202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.108G>A
  hgvsp: ENST00000371885.1:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.108G>A
  hgvsp: ENST00000294338.2:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2290G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37105
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16140
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala36Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

1-47653060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653060
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653060
    reference: chr 1
allele count: 4
allele frequency: 3.355479498020267e-5
allele num: 119208
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.107C>T
  hgvsp: ENSP00000294338.2:p.Ala36Val
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.107C>T
  hgvsp: ENSP00000360952.1:p.Ala36Val
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2291C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 331
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala36Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-47653061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653061
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653061
    reference: chr 1
allele count: 4
allele frequency: 3.35677481076182e-5
allele num: 119162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.106G>A
  hgvsp: ENSP00000294338.2:p.Ala36Thr
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2292G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.106G>A
  hgvsp: ENSP00000360952.1:p.Ala36Thr
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala36Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

1-47653068-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653068
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653068
    reference: chr 1
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.99C>A
  hgvsp: ENST00000371885.1:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2299C>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.99C>A
  hgvsp: ENST00000294338.2:c.99C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 4873
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly33Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

1-47653077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653077
    reference: chr 1
allele count: 1
allele frequency: 8.429286713758282e-6
allele num: 118634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.90G>A
  hgvsp: ENSP00000360952.1:p.Trp30Ter
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2308G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.90G>A
  hgvsp: ENSP00000294338.2:p.Trp30Ter
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 623
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 291
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genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp30Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-47653080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653080
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653080
    reference: chr 1
allele count: 71
allele frequency: 5.996419039897301e-4
allele num: 118404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.87C>T
  hgvsp: ENST00000294338.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2311C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.87C>T
  hgvsp: ENST00000371885.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16073
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 409
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35853
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 181
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 287
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genotype quality: GenotypeQuality
  all individuals: 1082
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genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 9.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro29Pro
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

1-47653085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653085
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653085
    reference: chr 1
allele count: 1
allele frequency: 8.467113730271625e-6
allele num: 118104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2316C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.82C>T
  hgvsp: ENSP00000294338.2:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.82C>T
  hgvsp: ENSP00000360952.1:p.Gln28Ter
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln28Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-47653089-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653089
    reference: chr 1
allele count: 1
allele frequency: 8.502678343678259e-6
allele num: 117610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.78C>A
  hgvsp: ENSP00000360952.1:p.Asn26Lys
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2320C>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.78C>A
  hgvsp: ENSP00000294338.2:p.Asn26Lys
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn26Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

1-47653089-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653088
    reference: chr 1
allele count: 1
allele frequency: 8.502678343678259e-6
allele num: 117610
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.77delA
  hgvsp: ENSP00000294338.2:p.Asn26ThrfsTer39
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.77delA
  hgvsp: ENSP00000360952.1:p.Asn26ThrfsTer39
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2321delA
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn26ThrfsTer39
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: GT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-47653091-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653091
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653091
    reference: chr 1
allele count: 1
allele frequency: 8.530094172239662e-6
allele num: 117232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2322A>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.76A>T
  hgvsp: ENSP00000294338.2:p.Asn26Tyr
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.76A>T
  hgvsp: ENSP00000360952.1:p.Asn26Tyr
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 668
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
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genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn26Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

1-47653107-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653107
    reference: chr 1
allele count: 1
allele frequency: 8.757180888328429e-6
allele num: 114192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.68-8T>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.68-8T>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2338T>C
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28660
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 1
hgvs: c.68-8T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

1-47653120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653120
    reference: chr 1
allele count: 1
allele frequency: 9.008522061870529e-6
allele num: 111006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2351C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.68-21C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.68-21C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

1-47653128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653128
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653128
    reference: chr 1
allele count: 1
allele frequency: 9.132253292177312e-6
allele num: 109502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2359G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.68-29G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.68-29G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8835
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-47653129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653129
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653129
    reference: chr 1
allele count: 1
allele frequency: 9.151977742390131e-6
allele num: 109266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2360C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.68-30C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.68-30C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-47653136-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653136
    reference: chr 1
allele count: 34
allele frequency: 3.161261529306754e-4
allele num: 107552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.68-37G>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2367G>C
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.68-37G>C
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 9
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

1-47653140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653140
    reference: chr 1
allele count: 1
allele frequency: 9.406452826639075e-6
allele num: 106310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.68-41C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.68-41C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2371C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 780
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

1-47653143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653143
    reference: chr 1
allele count: 1
allele frequency: 9.501729314735282e-6
allele num: 105244
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.68-44C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2374C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.68-44C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

1-47653148-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47653148
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47653148
    reference: chr 1
allele count: 122
allele frequency: 1.172017599477395e-3
allele num: 104094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.143-2379T>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.68-49T>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.68-49T>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1917
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 151
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-47655491-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655491
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655491
    reference: chr 1
allele count: 1
allele frequency: 1.892792247122956e-5
allele num: 52832
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+47A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+47A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+47A>G
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-47655497-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655497
    reference: chr 1
allele count: 3
allele frequency: 5.608944396664547e-5
allele num: 53486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+41G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+41G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+41G>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16698
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5813
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22412
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6564
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-47655504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655504
    reference: chr 1
allele count: 2
allele frequency: 3.638612960739366e-5
allele num: 54966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+34C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+34C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+34C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 999
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

1-47655508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655508
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655508
    reference: chr 1
allele count: 1
allele frequency: 1.787629603146228e-5
allele num: 55940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+30G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+30G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+30G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15739
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

1-47655511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655511
    reference: chr 1
allele count: 8
allele frequency: 1.401738155312588e-4
allele num: 57072
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+27C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+27C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+27C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26818
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8490
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-47655513-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655512
    reference: chr 1
allele count: 2
allele frequency: 3.450774698919907e-5
allele num: 57958
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+24delG
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+24delG
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+24delG
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9511
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: GC
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-47655516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655516
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655516
    reference: chr 1
allele count: 1
allele frequency: 1.67976886380434e-5
allele num: 59532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+22G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+22G>A
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+22G>A
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26552
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27113
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4955
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-47655517-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655517
    reference: chr 1
allele count: 1
allele frequency: 1.651254953764861e-5
allele num: 60560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+21T>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+21T>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+21T>G
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 224
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12258
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-47655519-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655519
    reference: chr 1
allele count: 162
allele frequency: 2.631664446538224e-3
allele num: 61558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+19G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+19G>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+19G>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26010
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12187
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2351
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  variant carriers: 32
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 42
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 56
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genotype depth: GenotypeDepth
  all individuals: 22
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genotype depth: GenotypeDepth
  all individuals: 196
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genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 875
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 282
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genotype quality: GenotypeQuality
  all individuals: 788
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.75e1
  variant carriers: 5
num of homozygotes: 3
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-47655533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655533
    reference: chr 1
allele count: 2
allele frequency: 2.766634389265459e-5
allele num: 72290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+5C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+5C>T
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+5C>T
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
hgvs: c.67+5C>T
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

1-47655535-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47655535
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 47655535
    reference: chr 1
allele count: 2
allele frequency: 2.702556618561159e-5
allele num: 74004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl transcript: ENST00000489919
  gene symbol: PDZK1IP1
  hgvsc: ENST00000489919.1:n.142+3A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000294338
  ensembl transcript: ENST00000294338
  gene symbol: PDZK1IP1
  hgvsc: ENST00000294338.2:c.67+3A>G
  variant of: http://identifiers.org/hgnc/16887
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162366
  ensembl protein: ENSP00000360952
  ensembl transcript: ENST00000371885
  gene symbol: PDZK1IP1
  hgvsc: ENST00000371885.1:c.67+3A>G
  variant of: http://identifiers.org/hgnc/16887
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22230
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
hgvs: c.67+3A>G
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 9173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.046783625730994e-3
allele num: 10260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.885958e6

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 3.042e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

QD
type: SiteQuality
SIO_000300: 1.621e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7923
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047294002925402e-5
allele num: 65632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

FS
type: SiteQuality
SIO_000300: 2.353e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.880449e6

GenotypeQuality
all individuals: 3581
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23615
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.037667071688943e-4
allele num: 16460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.86938e6

FS
type: SiteQuality
SIO_000300: 5.963e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

QD
type: SiteQuality
SIO_000300: 1.234e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 23360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.597e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 5.334e0

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.866541e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.601e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 22511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.633e0

FS
type: SiteQuality
SIO_000300: 5.659e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.85921e6

QD
type: SiteQuality
SIO_000300: 1.488e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3656
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.215362177929023e-3
allele num: 16456
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

DP
type: SiteQuality
SIO_000300: 1.845504e6

GenotypeQuality
all individuals: 20735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527370478983382e-5
allele num: 65472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.541e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 8.577e0

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

QD
type: SiteQuality
SIO_000300: 1.042e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.846267e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
all individuals: 16277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4707
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65398
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.818131e6

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.775e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.69e0

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

GenotypeQuality
all individuals: 323
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3298
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.043213633597079e-4
allele num: 6572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.365287235900122e-4
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65324
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

FS
type: SiteQuality
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QD
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.812054e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 29

European (Non-Finnish)
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allele count: 26
allele frequency: 3.986507206378411e-4
allele num: 65220
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16400
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8546
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African
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allele count: 1
allele frequency: 9.825112988799372e-5
allele num: 10178
num of homozygotes: 0

Other
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allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 15

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65136
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

East Asian
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allele count: 15
allele frequency: 1.763046544428773e-3
allele num: 8508
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Other
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allele frequency: 0.0e0
allele num: 890
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8744
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56854
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East Asian
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allele frequency: 0.0e0
allele num: 7020
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9930
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South Asian
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allele count: 1
allele frequency: 6.68359844940516e-5
allele num: 14962
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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MQRankSum
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DP
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SIO_000300: 1.075971e6

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.583e-1

QD
type: SiteQuality
SIO_000300: 1.803e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.759633996128805e-5
allele num: 56830
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.080802e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.041e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755679623582289e-5
allele num: 56958
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14996
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.845e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.093309e6

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7070
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.659563132658497e-5
allele num: 15016
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5774
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57128
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.71e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.641909814323607e-4
allele num: 15080
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7100
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57374
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.487e1

DP
type: SiteQuality
SIO_000300: 1.138513e6

BaseQRankSum
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.009e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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
allele num: 57580
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8822
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.39821029082774e-4
allele num: 7152
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DP
type: SiteQuality
SIO_000300: 1.154098e6

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.722771594941943e-5
allele num: 58046
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 15200
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5890
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South Asian
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allele frequency: 6.53765690376569e-5
allele num: 15296
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele frequency: 1.09962612711678e-4
allele num: 9094
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

Latino
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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

East Asian
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allele frequency: 0.0e0
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South Asian
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Latino
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African
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allele count: 1
allele frequency: 1.095290251916758e-4
allele num: 9130
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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

BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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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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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.655574318731168e-5
allele num: 60402
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
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SIO_000300: 8.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.078e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.650982334489021e-5
allele num: 60570
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7704
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

African
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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 frequency: 0.0e0
allele num: 832
num of homozygotes: 0

VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

African
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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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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.324310650139134e-5
allele num: 15812
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61858
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

FS
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.608234158893535e-5
allele num: 62180
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.638e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.018e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.53e-1

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.603232115945747e-5
allele num: 62374
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9500
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.38728e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.731e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.748e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.25e-5
allele num: 16000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8224
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6176
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62776
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.399885e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 13

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.769627015167414e-5
allele num: 62898
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16034
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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

Latino
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allele count: 10
allele frequency: 8.925383791503035e-4
allele num: 11204
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.405104e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
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South Asian
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allele frequency: 0.0e0
allele num: 16034
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62898
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

DP
type: SiteQuality
SIO_000300: 1.405104e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16034
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East Asian
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allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

Other
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African
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allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62898
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

DP
type: SiteQuality
SIO_000300: 1.405104e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16104
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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

Other
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East Asian
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allele count: 2
allele frequency: 2.399808015358771e-4
allele num: 8334
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.895401718039414e-5
allele num: 63328
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.844e0

QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.575696457834363e-5
allele num: 63464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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DP
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MQ
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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South 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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63594
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East Asian
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allele frequency: 7.151370679380214e-4
allele num: 8390
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
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MQRankSum
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DP
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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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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European (Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.555403471660549e-5
allele num: 64292
num of homozygotes: 0

East Asian
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DP
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MQRankSum
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BaseQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele num: 9904
num of homozygotes: 0

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

South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Other
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East Asian
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allele frequency: 6.984866123399302e-4
allele num: 8590
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10028
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
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MQ
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.474759e6

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64850
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.215657670799903e-4
allele num: 16452
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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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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Other
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QD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.93e-1

MQRankSum
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BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -1.089e0

GenotypeQuality
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variant carriers: 0

East Asian
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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African
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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 frequency: 1.534636751480924e-5
allele num: 65162
num of homozygotes: 0

InbreedingCoeff
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FS
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.486033e6

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6492
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.068331748028597e-5
allele num: 65182
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Other
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East Asian
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South Asian
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allele frequency: 6.066488716330988e-5
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Latino
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African
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.954e1

QD
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MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.486812e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
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South Asian
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allele count: 6
allele frequency: 3.638568829593693e-4
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.067014261616316e-5
allele num: 65210
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Latino
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allele count: 71
allele frequency: 6.178210929342151e-3
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African
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allele frequency: 4.942665085013839e-4
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East Asian
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allele count: 358
allele frequency: 4.154096077976328e-2
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Other
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FS
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MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65208
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Other
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East Asian
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allele count: 0
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African
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Latino
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European (Finnish)
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South Asian
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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FS
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele num: 8624
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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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European (Non-Finnish)
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allele frequency: 3.066073892380806e-5
allele num: 65230
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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Latino
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allele frequency: 8.875739644970414e-3
allele num: 11492
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European (Non-Finnish)
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allele frequency: 1.533366045142296e-5
allele num: 65216
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European (Finnish)
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East Asian
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South Asian
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Other
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QD
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ClippingRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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Other
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East Asian
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FS
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BaseQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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Latino
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MQRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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African
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Other
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South Asian
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Latino
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European (Non-Finnish)
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allele count: 2
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East Asian
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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Latino
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 4

European (Non-Finnish)
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allele frequency: 1.534024667116647e-5
allele num: 65188
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 2.965599051008304e-4
allele num: 10116
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6418
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ReadPosRankSum
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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DP
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FS
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.748e-1

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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European (Finnish)
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European (Non-Finnish)
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South Asian
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.485289e6

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6328
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Latino
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Other
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East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.540499738115044e-5
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ClippingRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
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variant carriers: 0

Other
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East Asian
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.087277330122565e-5
allele num: 64782
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African
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allele frequency: 6.276150627615063e-3
allele num: 10038
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Latino
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allele frequency: 4.380585246188891e-4
allele num: 11414
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.092360180333861e-5
allele num: 16414
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

DP
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11390
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East Asian
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South Asian
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allele frequency: 6.101281269066504e-5
allele num: 16390
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10002
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64630
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European (Finnish)
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VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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SIO_000300: -7.0e-4

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.467719e6

GenotypeQuality
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variant carriers: 0

Other
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allele num: 862
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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Latino
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African
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allele num: 9956
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MQ
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.457475e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64352
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6244
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African
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South Asian
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Latino
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East Asian
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allele frequency: 1.17426021606388e-4
allele num: 8516
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Other
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
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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 count: 0
allele frequency: 0.0e0
allele num: 6204
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African
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 1.177856301531213e-4
allele num: 8490
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
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DP
type: SiteQuality
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -1.2e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62628
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Latino
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South Asian
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Other
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African
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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Other
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FS
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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East Asian
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Latino
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.697331794419173e-5
allele num: 58916
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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MQ
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FS
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GenotypeQuality
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variant carriers: 0

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

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.098728e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

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

South Asian
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allele frequency: 6.511264487563485e-5
allele num: 15358
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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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

QD
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MQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.837e0

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57082
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Latino
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allele frequency: 5.08440105755542e-4
allele num: 9834
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.333485297469797e-2
allele num: 8774
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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QD
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FS
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MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 340
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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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African
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.274179817955602e-5
allele num: 30542
num of homozygotes: 0

ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
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MQ
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 30848
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1896
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East Asian
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allele frequency: 6.418485237483953e-4
allele num: 4674
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VQSLOD
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FS
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DP
type: SiteQuality
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MQ
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 5890
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European (Finnish)
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allele count: 1
allele frequency: 5.149330587023687e-4
allele num: 1942
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East Asian
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allele num: 4776
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Latino
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allele frequency: 2.393489707994256e-4
allele num: 4178
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6108
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 31714
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FS
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
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QD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.801e1

GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
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
allele frequency: 3.097125867195243e-5
allele num: 32288
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Other
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East Asian
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allele frequency: 0.0e0
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African
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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MQ
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DP
type: SiteQuality
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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African
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allele frequency: 3.327787021630616e-4
allele num: 6010
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European (Non-Finnish)
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allele count: 3
allele frequency: 9.101941747572816e-5
allele num: 32960
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 6.105006105006105e-4
allele num: 4914
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Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2084
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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Other
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allele frequency: 0.0e0
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Latino
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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African
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South Asian
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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MQ
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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Latino
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Other
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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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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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bin: 9.75e1
variant carriers: 143

Latino
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allele frequency: 1.844262295081967e-3
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European (Non-Finnish)
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allele frequency: 8.450704225352113e-5
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African
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South Asian
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Other
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East Asian
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European (Finnish)
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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QD
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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