1-40558195-CAAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40558192
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-19_125-17delATT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.125-3014_125-3012delATT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-469_125-467delATT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-19_125-17delATT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-19_-26-17delATT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.212-19_212-17delATT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-19_125-17delATT
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: CAAT
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-40558212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40558212
    reference: chr 1
allele count: 5
allele frequency: 4.125004125004125e-5
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-33C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.125-3028C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.212-33C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-33C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-33C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-483C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-33C>T
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-40558214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40558214
    reference: chr 1
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-35C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-485C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.212-35C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.125-3030C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-35C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-35C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-35C>T
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/1-40559555-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559556
    reference: chr 1
allele count: 1
allele frequency: 5.605381165919282e-4
allele num: 1784
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1377dupT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1827dupT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1377dupT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1377dupT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3231dupT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1377dupT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+49dupT
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
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: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-40559555-C-CAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559559
    reference: chr 1
allele count: 5
allele frequency: 2.802690582959641e-3
allele num: 1784
alternate allele: CAAAA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1380_125-1377dupTTTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1380_125-1377dupTTTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1380_-26-1377dupTTTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+46_211+49dupTTTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1830_125-1827dupTTTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3228_124+3231dupTTTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1380_125-1377dupTTTT
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 1
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-40559555-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559554
    reference: chr 1
allele count: 107
allele frequency: 5.997757847533632e-2
allele num: 1784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1377delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1377delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+49delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3231delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1377delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1827delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1377delT
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 10
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: CA
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-40559555-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559553
    reference: chr 1
allele count: 162
allele frequency: 9.080717488789238e-2
allele num: 1784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1378_125-1377delTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1378_-26-1377delTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3230_124+3231delTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1378_125-1377delTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1378_125-1377delTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1828_125-1827delTT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+48_211+49delTT
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 2.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 6
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: CAA
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-40559555-CAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559552
    reference: chr 1
allele count: 74
allele frequency: 4.147982062780269e-2
allele num: 1784
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 52
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 18
  allele frequency: 4.054054054054054e-2
  allele num: 444
  num of homozygotes: 0
population: African
  type: Population
  allele count: 4
  allele frequency: 2.247191011235955e-2
  allele num: 178
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: CAAA
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-40559555-CAAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559551
    reference: chr 1
allele count: 12
allele frequency: 6.726457399103139e-3
allele num: 1784
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4613
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 52
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 178
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 4.504504504504504e-3
  allele num: 444
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 10
  allele frequency: 1.079913606911447e-2
  allele num: 926
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
reference allele: CAAAA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum

1-40559572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559572
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559572
    reference: chr 1
allele count: 4
allele frequency: 4.934616333580064e-4
allele num: 8106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+33T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3215T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1393T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1843T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1393T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1393T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1393T>C
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

1-40559577-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559577
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559577
    reference: chr 1
allele count: 5
allele frequency: 7.163323782234957e-4
allele num: 6980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+28A>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1398A>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1398A>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3210A>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1398A>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1398A>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1848A>T
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-40559578-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559578
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559578
    reference: chr 1
allele count: 5
allele frequency: 5.929791271347248e-4
allele num: 8432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1399G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+27G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1849G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1399G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1399G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3209G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1399G>T
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-40559579-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559579
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559579
    reference: chr 1
allele count: 6
allele frequency: 6.839945280437756e-4
allele num: 8772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1400G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1400G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+26G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1850G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1400G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1400G>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3208G>T
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-40559593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559593
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559593
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 12272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1864T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1414T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1414T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1414T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+12T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3194T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1414T>C
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-40559595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559595
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559595
    reference: chr 1
allele count: 1
allele frequency: 8.025682182985554e-5
allele num: 12460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3192C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1416C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1416C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1416C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.211+10C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1866C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1416C>T
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-40559617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559617
    reference: chr 1
allele count: 1
allele frequency: 7.457121551081282e-5
allele num: 13410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1438G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3170G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1438G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1438G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1438G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.199G>A
  hgvsp: ENSP00000361865.4:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1888G>A
  variant of: http://identifiers.org/hgnc/9325
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala67Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-40559631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559631
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559631
    reference: chr 1
allele count: 1
allele frequency: 7.383343177790904e-5
allele num: 13544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3156C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1452C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.185C>T
  hgvsp: ENSP00000361865.4:p.Ser62Leu
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1452C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1902C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1452C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1452C>T
  variant of: http://identifiers.org/hgnc/9325
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser62Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

1-40559656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559656
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559656
    reference: chr 1
allele count: 10
allele frequency: 7.309941520467836e-4
allele num: 13680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1477T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1477T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3131T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1477T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1477T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.160T>C
  hgvsp: ENST00000372779.4:c.160T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1927T>C
  variant of: http://identifiers.org/hgnc/9325
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu54Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-40559663-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559663
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559663
    reference: chr 1
allele count: 1
allele frequency: 7.295010213014298e-5
allele num: 13708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1484C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1484C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.153C>G
  hgvsp: ENST00000372779.4:c.153C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3124C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1934C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1484C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1484C>G
  variant of: http://identifiers.org/hgnc/9325
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu51Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

1-40559674-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559674
    reference: chr 1
allele count: 1
allele frequency: 7.30887297178775e-5
allele num: 13682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1495C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3113C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1945C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1495C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.142C>G
  hgvsp: ENSP00000361865.4:p.Gln48Glu
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1495C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1495C>G
  variant of: http://identifiers.org/hgnc/9325
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln48Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS

1-40559680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559680
    reference: chr 1
allele count: 1
allele frequency: 7.360518180479906e-5
allele num: 13586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.136G>A
  hgvsp: ENSP00000361865.4:p.Val46Ile
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1501G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1951G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1501G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1501G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1501G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3107G>A
  variant of: http://identifiers.org/hgnc/9325
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val46Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-40559686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559686
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559686
    reference: chr 1
allele count: 1368
allele frequency: 1.006770680011775e-1
allele num: 13588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3101C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.130C>T
  hgvsp: ENSP00000361865.4:p.Arg44Cys
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1507C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1507C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1957C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1507C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1507C>T
  variant of: http://identifiers.org/hgnc/9325
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.25e1
  variant carriers: 5
hgvs: p.Arg44Cys
num of homozygotes: 95
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-40559690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559690
    reference: chr 1
allele count: 4
allele frequency: 2.977076510866329e-4
allele num: 13436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.126G>A
  hgvsp: ENST00000372779.4:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1511G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1511G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1511G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1511G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3097G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1961G>A
  variant of: http://identifiers.org/hgnc/9325
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
hgvs: c.126G>A
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: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/1-40559705-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559705
    reference: chr 1
allele count: 94
allele frequency: 7.224100830003074e-3
allele num: 13012
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1526T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3082T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1526T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1526T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1526T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.125-14T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-1976T>G
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 7
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-40559736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40559736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40559736
    reference: chr 1
allele count: 1
allele frequency: 8.591065292096221e-5
allele num: 11640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.125-2007G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.125-45G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.125-1557G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+3051G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.125-1557G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.125-1557G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436481
  ensembl transcript: ENST00000526547
  gene symbol: PPT1
  hgvsc: ENST00000526547.1:c.-26-1557G>A
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-40562741-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562741
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+46C>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+46C>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+46C>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+46C>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+46C>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+46C>A
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

1-40562741-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562740
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+45delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+45delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+45delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+45delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+45delT
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+45delT
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40018
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: GA
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

1-40562746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562746
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+41C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+41C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+41C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+41C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+41C>T
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+41C>T
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

1-40562746-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562746
    reference: chr 1
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+41C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+41C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+41C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+41C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+41C>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+41C>G
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-40562751-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562751
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562751
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+36T>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+36T>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+36T>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+36T>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+36T>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+36T>A
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-40562754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562754
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562754
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+33G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+33G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+33G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+33G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+33G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+33G>A
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-40562756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562756
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+31G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+31G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+31G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+31G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+31G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+31G>A
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40100
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-40562761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562761
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562761
    reference: chr 1
allele count: 12
allele frequency: 9.890707680134513e-5
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+26G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+26G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+26G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+26G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+26G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+26G>A
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12092
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-40562769-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562769
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562769
    reference: chr 1
allele count: 637
allele frequency: 5.250317326871404e-3
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+18T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+18T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+18T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+18T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+18T>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+18T>G
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16475
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 22707
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.75e1
  variant carriers: 525
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11138
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 620
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12099
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 18
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-40562773-TCTCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562773
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562769
    reference: chr 1
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+10_124+13delTGAG
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+10_124+13delTGAG
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+10_124+13delTGAG
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+10_124+13delTGAG
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+10_124+13delTGAG
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+10_124+13delTGAG
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: TCTCA
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-40562774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562774
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562774
    reference: chr 1
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+13G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+13G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+13G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+13G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+13G>A
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+13G>A
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40568
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-40562778-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562778
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562778
    reference: chr 1
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+9G>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+9G>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+9G>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+9G>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+9G>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+9G>C
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
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genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 1007
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 55
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12206
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-40562779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562779
    reference: chr 1
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+8A>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+8A>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+8A>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+8A>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+8A>G
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+8A>G
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 356
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2188
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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
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: c.124+8A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

1-40562781-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562781
    reference: chr 1
allele count: 4
allele frequency: 3.296739524610161e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.124+6T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.124+6T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.124+6T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.124+6T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.124+6T>C
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.124+6T>C
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
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genotype depth: GenotypeDepth
  all individuals: 38
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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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: 139
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.124+6T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-40562795-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562795
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562795
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.116A>C
  hgvsp: ENSP00000361865.4:p.His39Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.116A>C
  hgvsp: ENSP00000432053.1:p.His39Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.116A>C
  hgvsp: ENSP00000392293.2:p.His39Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.116A>C
  hgvsp: ENSP00000394863.3:p.His39Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.116A>C
  hgvsp: ENSP00000436695.2:p.His39Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.116A>C
  hgvsp: ENSP00000431655.1:p.His39Pro
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His39Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-40562802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562802
    reference: chr 1
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.109A>G
  hgvsp: ENSP00000431655.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.109A>G
  hgvsp: ENSP00000392293.2:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.109A>G
  hgvsp: ENSP00000394863.3:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.109A>G
  hgvsp: ENSP00000432053.1:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.109A>G
  hgvsp: ENSP00000361865.4:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.109A>G
  hgvsp: ENSP00000436695.2:p.Ile37Val
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile37Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-40562809-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562809
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562809
    reference: chr 1
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.102G>T
  hgvsp: ENST00000372779.4:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.102G>T
  hgvsp: ENST00000433473.3:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.102G>T
  hgvsp: ENST00000530704.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.102G>T
  hgvsp: ENST00000449045.2:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.102G>T
  hgvsp: ENST00000527311.2:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.102G>T
  hgvsp: ENST00000529905.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro34Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-40562809-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562809
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562809
    reference: chr 1
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.102G>A
  hgvsp: ENST00000372779.4:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.102G>A
  hgvsp: ENST00000449045.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.102G>A
  hgvsp: ENST00000433473.3:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.102G>A
  hgvsp: ENST00000527311.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.102G>A
  hgvsp: ENST00000530704.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.102G>A
  hgvsp: ENST00000529905.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro34Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-40562821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562821
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562821
    reference: chr 1
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.90G>A
  hgvsp: ENST00000433473.3:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.90G>A
  hgvsp: ENST00000372779.4:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.90G>A
  hgvsp: ENST00000449045.2:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.90G>A
  hgvsp: ENST00000529905.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.90G>A
  hgvsp: ENST00000530704.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.90G>A
  hgvsp: ENST00000527311.2:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro30Pro
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-40562822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562822
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562822
    reference: chr 1
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.89C>T
  hgvsp: ENSP00000392293.2:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.89C>T
  hgvsp: ENSP00000394863.3:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.89C>T
  hgvsp: ENSP00000361865.4:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.89C>T
  hgvsp: ENSP00000431655.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.89C>T
  hgvsp: ENSP00000436695.2:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.89C>T
  hgvsp: ENSP00000432053.1:p.Pro30Leu
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro30Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

1-40562825-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562825
    reference: chr 1
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.86C>A
  hgvsp: ENSP00000431655.1:p.Pro29Gln
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.86C>A
  hgvsp: ENSP00000432053.1:p.Pro29Gln
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.86C>A
  hgvsp: ENSP00000436695.2:p.Pro29Gln
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.86C>A
  hgvsp: ENSP00000394863.3:p.Pro29Gln
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.86C>A
  hgvsp: ENSP00000361865.4:p.Pro29Gln
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.86C>A
  hgvsp: ENSP00000392293.2:p.Pro29Gln
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro29Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

1-40562828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562828
    reference: chr 1
allele count: 17
allele frequency: 1.404842574993802e-4
allele num: 121010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.83A>G
  hgvsp: ENSP00000392293.2:p.Asp28Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.83A>G
  hgvsp: ENSP00000431655.1:p.Asp28Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.83A>G
  hgvsp: ENSP00000394863.3:p.Asp28Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.83A>G
  hgvsp: ENSP00000361865.4:p.Asp28Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.83A>G
  hgvsp: ENSP00000432053.1:p.Asp28Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.83A>G
  hgvsp: ENSP00000436695.2:p.Asp28Gly
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40466
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp28Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-40562835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562835
    reference: chr 1
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.76C>T
  hgvsp: ENSP00000394863.3:p.His26Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.76C>T
  hgvsp: ENSP00000432053.1:p.His26Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.76C>T
  hgvsp: ENSP00000436695.2:p.His26Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.76C>T
  hgvsp: ENSP00000392293.2:p.His26Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.76C>T
  hgvsp: ENSP00000361865.4:p.His26Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.76C>T
  hgvsp: ENSP00000431655.1:p.His26Tyr
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22879
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His26Tyr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-40562836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562836
    reference: chr 1
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.75G>A
  hgvsp: ENST00000527311.2:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.75G>A
  hgvsp: ENST00000529905.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.75G>A
  hgvsp: ENST00000530704.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.75G>A
  hgvsp: ENST00000449045.2:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.75G>A
  hgvsp: ENST00000372779.4:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.75G>A
  hgvsp: ENST00000433473.3:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln25Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

1-40562840-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562840
    reference: chr 1
allele count: 2
allele frequency: 1.65180046250413e-5
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.71T>C
  hgvsp: ENSP00000432053.1:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.71T>C
  hgvsp: ENSP00000394863.3:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.71T>C
  hgvsp: ENSP00000361865.4:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.71T>C
  hgvsp: ENSP00000431655.1:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.71T>C
  hgvsp: ENSP00000392293.2:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.71T>C
  hgvsp: ENSP00000436695.2:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12138
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu24Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-40562842-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562842
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562842
    reference: chr 1
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.69G>C
  hgvsp: ENST00000372779.4:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.69G>C
  hgvsp: ENST00000530704.1:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.69G>C
  hgvsp: ENST00000449045.2:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.69G>C
  hgvsp: ENST00000433473.3:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.69G>C
  hgvsp: ENST00000529905.1:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.69G>C
  hgvsp: ENST00000527311.2:c.69G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala23Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-40562843-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562843
    reference: chr 1
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.68C>G
  hgvsp: ENSP00000392293.2:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.68C>G
  hgvsp: ENSP00000394863.3:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.68C>G
  hgvsp: ENSP00000432053.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.68C>G
  hgvsp: ENSP00000431655.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.68C>G
  hgvsp: ENSP00000361865.4:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.68C>G
  hgvsp: ENSP00000436695.2:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40605
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala23Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-40562844-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562844
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562844
    reference: chr 1
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.67G>T
  hgvsp: ENSP00000392293.2:p.Ala23Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.67G>T
  hgvsp: ENSP00000436695.2:p.Ala23Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.67G>T
  hgvsp: ENSP00000432053.1:p.Ala23Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.67G>T
  hgvsp: ENSP00000361865.4:p.Ala23Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.67G>T
  hgvsp: ENSP00000431655.1:p.Ala23Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.67G>T
  hgvsp: ENSP00000394863.3:p.Ala23Ser
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala23Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-40562844-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562844
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562844
    reference: chr 1
allele count: 2
allele frequency: 1.652046059044126e-5
allele num: 121062
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.67G>C
  hgvsp: ENSP00000394863.3:p.Ala23Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.67G>C
  hgvsp: ENSP00000432053.1:p.Ala23Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.67G>C
  hgvsp: ENSP00000392293.2:p.Ala23Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.67G>C
  hgvsp: ENSP00000436695.2:p.Ala23Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.67G>C
  hgvsp: ENSP00000431655.1:p.Ala23Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.67G>C
  hgvsp: ENSP00000361865.4:p.Ala23Pro
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala23Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-40562848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562848
    reference: chr 1
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.63T>C
  hgvsp: ENST00000433473.3:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.63T>C
  hgvsp: ENST00000529905.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.63T>C
  hgvsp: ENST00000527311.2:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.63T>C
  hgvsp: ENST00000372779.4:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.63T>C
  hgvsp: ENST00000449045.2:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.63T>C
  hgvsp: ENST00000530704.1:c.63T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12119
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser21Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

1-40562854-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562854
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562854
    reference: chr 1
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.57C>G
  hgvsp: ENSP00000392293.2:p.Cys19Trp
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.57C>G
  hgvsp: ENSP00000436695.2:p.Cys19Trp
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.57C>G
  hgvsp: ENSP00000431655.1:p.Cys19Trp
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.57C>G
  hgvsp: ENSP00000361865.4:p.Cys19Trp
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.57C>G
  hgvsp: ENSP00000432053.1:p.Cys19Trp
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.57C>G
  hgvsp: ENSP00000394863.3:p.Cys19Trp
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40492
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys19Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

1-40562857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562857
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562857
    reference: chr 1
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.54C>T
  hgvsp: ENST00000372779.4:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.54C>T
  hgvsp: ENST00000433473.3:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.54C>T
  hgvsp: ENST00000449045.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.54C>T
  hgvsp: ENST00000527311.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.54C>T
  hgvsp: ENST00000530704.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.54C>T
  hgvsp: ENST00000529905.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40511
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr18Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-40562862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562862
    reference: chr 1
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.49T>C
  hgvsp: ENSP00000361865.4:p.Trp17Arg
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.49T>C
  hgvsp: ENSP00000431655.1:p.Trp17Arg
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.49T>C
  hgvsp: ENSP00000392293.2:p.Trp17Arg
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.49T>C
  hgvsp: ENSP00000394863.3:p.Trp17Arg
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.49T>C
  hgvsp: ENSP00000436695.2:p.Trp17Arg
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.49T>C
  hgvsp: ENSP00000432053.1:p.Trp17Arg
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp17Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-40562868-G-GGAGAGCCACAGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562881
    reference: chr 1
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: GGAGAGCCACAGCC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsp: ENSP00000432053.1:p.Leu15GlyfsTer45
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsp: ENSP00000392293.2:p.Leu15GlyfsTer48
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsp: ENSP00000436695.2:p.Leu15GlyfsTer76
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsp: ENSP00000431655.1:p.Leu15GlyfsTer45
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsp: ENSP00000394863.3:p.Leu15GlyfsTer45
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsp: ENSP00000361865.4:p.Leu15GlyfsTer74
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu15GlyfsTer45
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-40562869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562869
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562869
    reference: chr 1
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.42C>T
  hgvsp: ENST00000529905.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.42C>T
  hgvsp: ENST00000530704.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.42C>T
  hgvsp: ENST00000433473.3:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.42C>T
  hgvsp: ENST00000527311.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.42C>T
  hgvsp: ENST00000372779.4:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.42C>T
  hgvsp: ENST00000449045.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16346
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu14Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

1-40562869-G-GAGAGCCACAGCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562869
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562882
    reference: chr 1
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: GAGAGCCACAGCCA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsp: ENSP00000392293.2:p.Leu15GlyfsTer48
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsp: ENSP00000394863.3:p.Leu15GlyfsTer45
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsp: ENSP00000436695.2:p.Leu15GlyfsTer76
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsp: ENSP00000431655.1:p.Leu15GlyfsTer45
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsp: ENSP00000432053.1:p.Leu15GlyfsTer45
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsp: ENSP00000361865.4:p.Leu15GlyfsTer74
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu15GlyfsTer45
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-40562871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562871
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562871
    reference: chr 1
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.40C>T
  hgvsp: ENSP00000392293.2:p.Leu14Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.40C>T
  hgvsp: ENSP00000431655.1:p.Leu14Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.40C>T
  hgvsp: ENSP00000436695.2:p.Leu14Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.40C>T
  hgvsp: ENSP00000432053.1:p.Leu14Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.40C>T
  hgvsp: ENSP00000394863.3:p.Leu14Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.40C>T
  hgvsp: ENSP00000361865.4:p.Leu14Phe
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39942
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu14Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-40562880-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562880
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562880
    reference: chr 1
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.31G>C
  hgvsp: ENSP00000392293.2:p.Ala11Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.31G>C
  hgvsp: ENSP00000432053.1:p.Ala11Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.31G>C
  hgvsp: ENSP00000431655.1:p.Ala11Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.31G>C
  hgvsp: ENSP00000394863.3:p.Ala11Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.31G>C
  hgvsp: ENSP00000361865.4:p.Ala11Pro
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.31G>C
  hgvsp: ENSP00000436695.2:p.Ala11Pro
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala11Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-40562882-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562882
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562882
    reference: chr 1
allele count: 9
allele frequency: 7.4827895839569e-5
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.29T>A
  hgvsp: ENSP00000431655.1:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.29T>A
  hgvsp: ENSP00000392293.2:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.29T>A
  hgvsp: ENSP00000394863.3:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.29T>A
  hgvsp: ENSP00000361865.4:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.29T>A
  hgvsp: ENSP00000432053.1:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.29T>A
  hgvsp: ENSP00000436695.2:p.Leu10Ter
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu10Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-40562884-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562884
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562884
    reference: chr 1
allele count: 1
allele frequency: 8.323206765102459e-6
allele num: 120146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.27C>G
  hgvsp: ENST00000449045.2:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.27C>G
  hgvsp: ENST00000433473.3:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.27C>G
  hgvsp: ENST00000372779.4:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.27C>G
  hgvsp: ENST00000530704.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.27C>G
  hgvsp: ENST00000527311.2:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.27C>G
  hgvsp: ENST00000529905.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu9Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS

1-40562892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562892
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562892
    reference: chr 1
allele count: 5
allele frequency: 4.18802559721245e-5
allele num: 119388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.19C>T
  hgvsp: ENST00000530704.1:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.19C>T
  hgvsp: ENST00000433473.3:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.19C>T
  hgvsp: ENST00000529905.1:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.19C>T
  hgvsp: ENST00000372779.4:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.19C>T
  hgvsp: ENST00000449045.2:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.19C>T
  hgvsp: ENST00000527311.2:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu7Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-40562892-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562892
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562892
    reference: chr 1
allele count: 1
allele frequency: 8.3760511944249e-6
allele num: 119388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.19C>A
  hgvsp: ENSP00000432053.1:p.Leu7Met
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.19C>A
  hgvsp: ENSP00000361865.4:p.Leu7Met
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.19C>A
  hgvsp: ENSP00000394863.3:p.Leu7Met
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.19C>A
  hgvsp: ENSP00000436695.2:p.Leu7Met
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.19C>A
  hgvsp: ENSP00000392293.2:p.Leu7Met
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.19C>A
  hgvsp: ENSP00000431655.1:p.Leu7Met
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu7Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-40562893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562893
    reference: chr 1
allele count: 1
allele frequency: 8.380684199058012e-6
allele num: 119322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.18C>T
  hgvsp: ENST00000529905.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.18C>T
  hgvsp: ENST00000433473.3:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.18C>T
  hgvsp: ENST00000449045.2:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.18C>T
  hgvsp: ENST00000372779.4:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.18C>T
  hgvsp: ENST00000530704.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.18C>T
  hgvsp: ENST00000527311.2:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11702
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys6Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-40562894-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562894
    reference: chr 1
allele count: 1
allele frequency: 8.380543729677181e-6
allele num: 119324
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.17G>T
  hgvsp: ENSP00000394863.3:p.Cys6Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.17G>T
  hgvsp: ENSP00000392293.2:p.Cys6Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.17G>T
  hgvsp: ENSP00000436695.2:p.Cys6Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.17G>T
  hgvsp: ENSP00000432053.1:p.Cys6Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.17G>T
  hgvsp: ENSP00000361865.4:p.Cys6Phe
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.17G>T
  hgvsp: ENSP00000431655.1:p.Cys6Phe
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys6Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-40562894-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562894
    reference: chr 1
allele count: 4
allele frequency: 3.352217491870872e-5
allele num: 119324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.17G>C
  hgvsp: ENSP00000432053.1:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.17G>C
  hgvsp: ENSP00000431655.1:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.17G>C
  hgvsp: ENSP00000436695.2:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.17G>C
  hgvsp: ENSP00000394863.3:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.17G>C
  hgvsp: ENSP00000361865.4:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.17G>C
  hgvsp: ENSP00000392293.2:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys6Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-40562894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562894
    reference: chr 1
allele count: 2
allele frequency: 1.676108745935436e-5
allele num: 119324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.17G>A
  hgvsp: ENSP00000361865.4:p.Cys6Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.17G>A
  hgvsp: ENSP00000432053.1:p.Cys6Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.17G>A
  hgvsp: ENSP00000394863.3:p.Cys6Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.17G>A
  hgvsp: ENSP00000392293.2:p.Cys6Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.17G>A
  hgvsp: ENSP00000436695.2:p.Cys6Tyr
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.17G>A
  hgvsp: ENSP00000431655.1:p.Cys6Tyr
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys6Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

1-40562896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562896
    reference: chr 1
allele count: 1
allele frequency: 8.403220113947665e-6
allele num: 119002
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.15C>T
  hgvsp: ENST00000433473.3:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.15C>T
  hgvsp: ENST00000372779.4:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.15C>T
  hgvsp: ENST00000529905.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.15C>T
  hgvsp: ENST00000449045.2:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.15C>T
  hgvsp: ENST00000530704.1:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.15C>T
  hgvsp: ENST00000527311.2:c.15C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly5Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-40562897-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40562897
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 40562897
    reference: chr 1
allele count: 2
allele frequency: 1.680926526701518e-5
allele num: 118982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000432053
  ensembl transcript: ENST00000529905
  gene symbol: PPT1
  hgvsc: ENST00000529905.1:c.14G>C
  hgvsp: ENSP00000432053.1:p.Gly5Ala
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000436695
  ensembl transcript: ENST00000527311
  gene symbol: PPT1
  hgvsc: ENST00000527311.2:c.14G>C
  hgvsp: ENSP00000436695.2:p.Gly5Ala
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000431655
  ensembl transcript: ENST00000530704
  gene symbol: PPT1
  hgvsc: ENST00000530704.1:c.14G>C
  hgvsp: ENSP00000431655.1:p.Gly5Ala
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000394863
  ensembl transcript: ENST00000433473
  gene symbol: PPT1
  hgvsc: ENST00000433473.3:c.14G>C
  hgvsp: ENSP00000394863.3:p.Gly5Ala
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000361865
  ensembl transcript: ENST00000372779
  gene symbol: PPT1
  hgvsc: ENST00000372779.4:c.14G>C
  hgvsp: ENSP00000361865.4:p.Gly5Ala
  variant of: http://identifiers.org/hgnc/9325
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131238
  ensembl protein: ENSP00000392293
  ensembl transcript: ENST00000449045
  gene symbol: PPT1
  hgvsc: ENST00000449045.2:c.14G>C
  hgvsp: ENSP00000392293.2:p.Gly5Ala
  variant of: http://identifiers.org/hgnc/9325
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly5Ala
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 40582
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 2792
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.653e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.495e0

QD
type: SiteQuality
SIO_000300: 1.781e1

MQRankSum
type: SiteQuality
SIO_000300: -3.87e0

MQ
type: SiteQuality
SIO_000300: 5.533e1

DP
type: SiteQuality
SIO_000300: 3.23202e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.005e1

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

GenotypeQuality
all individuals: 1485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998260504453708e-5
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

FS
type: SiteQuality
SIO_000300: 9.592000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.065e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.901e0

DP
type: SiteQuality
SIO_000300: 3.225286e6

GenotypeQuality
all individuals: 3908
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40576
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.213e1

DP
type: SiteQuality
SIO_000300: 3.223915e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.962e0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
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GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.079913606911447e-3
allele num: 926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.36723e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

QD
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.079e-1

FS
type: SiteQuality
SIO_000300: 5.0721e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.17e1

GenotypeQuality
all individuals: 30
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.172839506172839e-3
allele num: 162
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 2.247191011235955e-2
allele num: 178
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 5.0721e1

DP
type: SiteQuality
SIO_000300: 1.36723e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.079e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

MQ
type: SiteQuality
SIO_000300: 5.17e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 2.66e0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 13

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 38
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 230
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 23
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 40
bin: 6.25e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 74
allele frequency: 7.991360691144708e-2
allele num: 926
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.0e-1
allele num: 10
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 9.550561797752809e-2
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 8.333333333333333e-2
allele num: 12
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 6.790123456790123e-2
allele num: 162
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.923076923076923e-2
allele num: 52
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.252252252252252e-3
allele num: 444
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 5.0721e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 5.17e1

DP
type: SiteQuality
SIO_000300: 1.36723e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.079e-1

GenotypeQuality
all individuals: 436
bin: 7.5e0
variant carriers: 13

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 16

GenotypeQuality
all individuals: 25
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 27
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 10

GenotypeQuality
all individuals: 40
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 30
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 14

East Asian
type: Population
allele count: 23
allele frequency: 1.419753086419753e-1
allele num: 162
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 9.550561797752809e-2
allele num: 178
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.76923076923077e-2
allele num: 52
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 113
allele frequency: 1.220302375809935e-1
allele num: 926
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 1.351351351351351e-2
allele num: 444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.0721e1

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.079e-1

QD
type: SiteQuality
SIO_000300: 2.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.36723e5

MQ
type: SiteQuality
SIO_000300: 5.17e1

European (Non-Finnish)
type: Population
allele count: 41
allele frequency: 4.427645788336933e-2
allele num: 926
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 6.790123456790123e-2
allele num: 162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.17e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

FS
type: SiteQuality
SIO_000300: 5.0721e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.079e-1

DP
type: SiteQuality
SIO_000300: 1.36723e5

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 5.0721e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.079e-1

DP
type: SiteQuality
SIO_000300: 1.36723e5

QD
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 5.17e1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 162
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 52
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GenotypeQuality
all individuals: 3047
bin: 7.5e0
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 8.25e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.518796992481203e-3
allele num: 532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.1544e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

QD
type: SiteQuality
SIO_000300: 5.62e0

DP
type: SiteQuality
SIO_000300: 1.45596e5

VQSLOD
type: SiteQuality
SIO_000300: -1.073e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.409e0

MQ
type: SiteQuality
SIO_000300: 5.284e1

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.248862897985705e-4
allele num: 3078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 8.771929824561403e-3
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2794
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e0

DP
type: SiteQuality
SIO_000300: 1.33005e5

FS
type: SiteQuality
SIO_000300: 1.17029e2

VQSLOD
type: SiteQuality
SIO_000300: -6.425e1

MQRankSum
type: SiteQuality
SIO_000300: -2.793e0

QD
type: SiteQuality
SIO_000300: 5.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.510000000000001e-2

MQ
type: SiteQuality
SIO_000300: 4.865e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.135e0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.49500998003992e-4
allele num: 4008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.8125e-3
allele num: 512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.36e0

MQRankSum
type: SiteQuality
SIO_000300: -3.075e0

VQSLOD
type: SiteQuality
SIO_000300: -4.794e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

FS
type: SiteQuality
SIO_000300: 9.6066e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

DP
type: SiteQuality
SIO_000300: 1.34128e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.619e0

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 343
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 7.434944237918215e-3
allele num: 538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 4.670714619336758e-4
allele num: 4282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.24e0

FS
type: SiteQuality
SIO_000300: 5.6854e1

DP
type: SiteQuality
SIO_000300: 1.36049e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.459e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.373e0

MQRankSum
type: SiteQuality
SIO_000300: -2.855e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.28e-2

MQ
type: SiteQuality
SIO_000300: 5.119e1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6704
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.57e-2

FS
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 7.43e0

DP
type: SiteQuality
SIO_000300: 1.84686e5

MQ
type: SiteQuality
SIO_000300: 5.728e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.461560947091494e-4
allele num: 6842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.905e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.224e0

DP
type: SiteQuality
SIO_000300: 1.87256e5

VQSLOD
type: SiteQuality
SIO_000300: -1.29e0

FS
type: SiteQuality
SIO_000300: 6.576e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.72e-2

QD
type: SiteQuality
SIO_000300: 9.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
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variant carriers: 1

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.24517287831163e-4
allele num: 4454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.246e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 2.866e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.115e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

MQ
type: SiteQuality
SIO_000300: 5.52e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.99232e5

GenotypeQuality
all individuals: 4807
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.340123291342804e-4
allele num: 7462
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.652e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 2.925e0

DP
type: SiteQuality
SIO_000300: 2.00593e5

VQSLOD
type: SiteQuality
SIO_000300: -5.484e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1245
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 850
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variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.341561577676415e-3
allele num: 7454
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 2.00887e5

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.19e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.342281879194631e-4
allele num: 7450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 6.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.293e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

FS
type: SiteQuality
SIO_000300: 1.433e0

VQSLOD
type: SiteQuality
SIO_000300: -1.815e0

MQ
type: SiteQuality
SIO_000300: 5.229e1

DP
type: SiteQuality
SIO_000300: 2.00616e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
all individuals: 316
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GenotypeQuality
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GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.345895020188425e-4
allele num: 7430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.279e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.43e-1

DP
type: SiteQuality
SIO_000300: 1.99409e5

VQSLOD
type: SiteQuality
SIO_000300: -1.523e0

QD
type: SiteQuality
SIO_000300: 1.152e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 783
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GenotypeQuality
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GenotypeQuality
all individuals: 122
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GenotypeQuality
all individuals: 4202
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.357220412595005e-4
allele num: 7368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4588
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.97563e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.443e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.619e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

MQ
type: SiteQuality
SIO_000300: 4.905e1

QD
type: SiteQuality
SIO_000300: 9.42e0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1027
bin: 7.5e0
variant carriers: 11

GenotypeQuality
all individuals: 116
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 43
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1468
bin: 9.75e1
variant carriers: 1215

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 8

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 200
allele frequency: 4.363001745200698e-2
allele num: 4584
num of homozygotes: 2

South Asian
type: Population
allele count: 930
allele frequency: 1.268412438625205e-1
allele num: 7332
num of homozygotes: 69

Other
type: Population
allele count: 6
allele frequency: 4.0e-2
allele num: 150
num of homozygotes: 0

East Asian
type: Population
allele count: 53
allele frequency: 1.152173913043478e-1
allele num: 460
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.666666666666667e-1
allele num: 30
num of homozygotes: 1

Latino
type: Population
allele count: 15
allele frequency: 6.198347107438017e-2
allele num: 242
num of homozygotes: 0

African
type: Population
allele count: 159
allele frequency: 2.012658227848101e-1
allele num: 790
num of homozygotes: 18

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 2.05791e5

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.592e1

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.904e0

QD
type: SiteQuality
SIO_000300: 1.391e1

GenotypeQuality
all individuals: 137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.555555555555556e-4
allele num: 7200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.566e1

VQSLOD
type: SiteQuality
SIO_000300: -1.385e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

FS
type: SiteQuality
SIO_000300: 1.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.87252e5

QD
type: SiteQuality
SIO_000300: 1.368e1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

GenotypeQuality
all individuals: 1571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 58
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 81

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 1

South Asian
type: Population
allele count: 2
allele frequency: 2.911208151382824e-4
allele num: 6870
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.25e-2
allele num: 240
num of homozygotes: 0

African
type: Population
allele count: 86
allele frequency: 1.053921568627451e-1
allele num: 816
num of homozygotes: 7

Other
type: Population
allele count: 2
allele frequency: 1.351351351351351e-2
allele num: 148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.238137869292748e-4
allele num: 4468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.72339e5

MQ
type: SiteQuality
SIO_000300: 5.716e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

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

GenotypeQuality
all individuals: 221
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.282051282051282e-3
allele num: 780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 8.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.556e1

VQSLOD
type: SiteQuality
SIO_000300: -9.187e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.42174e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 40018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12079
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

DP
type: SiteQuality
SIO_000300: 2.063587e6

QD
type: SiteQuality
SIO_000300: 1.329e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 1.777e0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2444
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12079
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.063587e6

FS
type: SiteQuality
SIO_000300: 1.777e0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

DP
type: SiteQuality
SIO_000300: 2.063646e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.211e0

QD
type: SiteQuality
SIO_000300: 1.36e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.36e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 2.063646e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

GenotypeQuality
all individuals: 1010
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12088
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.146e0

VQSLOD
type: SiteQuality
SIO_000300: -9.379999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

QD
type: SiteQuality
SIO_000300: 7.89e0

DP
type: SiteQuality
SIO_000300: 2.063424e6

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

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

GenotypeQuality
all individuals: 12089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
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variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.175e0

DP
type: SiteQuality
SIO_000300: 2.063445e6

QD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.018e0

VQSLOD
type: SiteQuality
SIO_000300: -3.634e0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.063405e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.135e1

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

GenotypeQuality
all individuals: 1009
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.036627505183138e-3
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.776e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.063862e6

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 591
allele frequency: 5.683785343335257e-2
allele num: 10398
num of homozygotes: 18

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.550025500255002e-4
allele num: 66666
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.332411886662059e-3
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.543e1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.25e-2

DP
type: SiteQuality
SIO_000300: 2.100651e6

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 12208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.803e1

QD
type: SiteQuality
SIO_000300: 9.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.332e0

FS
type: SiteQuality
SIO_000300: 6.035e0

MQRankSum
type: SiteQuality
SIO_000300: -1.584e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.006632e6

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.894e0

FS
type: SiteQuality
SIO_000300: 2.824e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.006676e6

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40584
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

DP
type: SiteQuality
SIO_000300: 2.006564e6

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.921e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.0012e1

DP
type: SiteQuality
SIO_000300: 2.006357e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.909e0

VQSLOD
type: SiteQuality
SIO_000300: -2.089e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.476e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.844e0

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.251e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.00663e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.15e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

DP
type: SiteQuality
SIO_000300: 2.005644e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 5.142e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2469
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.1e-1

DP
type: SiteQuality
SIO_000300: 2.005077e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

GenotypeQuality
all individuals: 12190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40512
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.266e0

DP
type: SiteQuality
SIO_000300: 2.004382e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.03e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.358e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 1005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.004382e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -3.358e-1

FS
type: SiteQuality
SIO_000300: 3.266e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.03e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 476
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.111e0

DP
type: SiteQuality
SIO_000300: 2.001181e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

FS
type: SiteQuality
SIO_000300: 2.561e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

QD
type: SiteQuality
SIO_000300: 6.92e0

GenotypeQuality
all individuals: 2150
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
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GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

FS
type: SiteQuality
SIO_000300: 3.975e0

QD
type: SiteQuality
SIO_000300: 1.371e1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 2.000689e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.109e0

MQRankSum
type: SiteQuality
SIO_000300: -1.019e0

QD
type: SiteQuality
SIO_000300: 7.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.921e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.272e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: -1.176e0

DP
type: SiteQuality
SIO_000300: 2.004117e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 12116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.016847172081829e-5
allele num: 66480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 1.985945615643141e-3
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 3.3344e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 3.019e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.385e0

DP
type: SiteQuality
SIO_000300: 1.990883e6

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12153
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
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SIO_000300: -3.726e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

DP
type: SiteQuality
SIO_000300: 1.982346e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 981
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2436
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

DP
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.0197e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
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 num: 906
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
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BaseQRankSum
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MQRankSum
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FS
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2420
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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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: 16504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.537e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.661e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

FS
type: SiteQuality
SIO_000300: 8.055999999999999e0

DP
type: SiteQuality
SIO_000300: 1.979701e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: -1.343e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1067
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variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 2.975e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.324e1

DP
type: SiteQuality
SIO_000300: 1.979598e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008604609182261e-5
allele num: 66476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.324e1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 2.975e0

DP
type: SiteQuality
SIO_000300: 1.979598e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 290
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GenotypeQuality
all individuals: 1063
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.009419482981733e-5
allele num: 66458
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

FS
type: SiteQuality
SIO_000300: 3.026e0

MQRankSum
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

QD
type: SiteQuality
SIO_000300: 1.615e1

DP
type: SiteQuality
SIO_000300: 1.978377e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 40
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.975852e6

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

FS
type: SiteQuality
SIO_000300: 1.648e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: -3.548e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 467
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GenotypeQuality
all individuals: 2408
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.908e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.647e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

DP
type: SiteQuality
SIO_000300: 1.97509e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
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allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

East Asian
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allele count: 0
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allele num: 8640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508978421608571e-5
allele num: 66270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
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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
allele num: 6612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.579e1

InbreedingCoeff
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -1.439e0

VQSLOD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509889778046203e-5
allele num: 66230
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 num: 11550
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Other
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allele num: 900
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South Asian
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.289e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66230
num of homozygotes: 0

East Asian
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allele num: 8638
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
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Other
type: Population
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allele num: 900
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South Asian
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allele frequency: 0.0e0
allele num: 16490
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European (Finnish)
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allele num: 6610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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ClippingRankSum
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DP
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MQRankSum
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510482750286992e-5
allele num: 66204
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.838e0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 1.96436e6

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1046
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2092
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514784294716432e-5
allele num: 66016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
SIO_000300: -6.364e-1

DP
type: SiteQuality
SIO_000300: 1.959796e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.318e0

QD
type: SiteQuality
SIO_000300: 7.52e0

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

GenotypeQuality
all individuals: 338
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
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: 8
allele frequency: 1.212268153715602e-4
allele num: 65992
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.8405825624877e-5
allele num: 10162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.958967e6

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 2.487e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.569e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.685e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.57e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.95577e6

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

FS
type: SiteQuality
SIO_000300: 4.699e0

GenotypeQuality
all individuals: 39281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.636852394916911e-5
allele num: 65472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

FS
type: SiteQuality
SIO_000300: 2.367e0

DP
type: SiteQuality
SIO_000300: 1.93404e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 2035
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 444
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.003814495081309e-4
allele num: 9962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.391e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 2.367e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 1.93404e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
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variant carriers: 0

GenotypeQuality
all individuals: 1942
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variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-4
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.466e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 3.353e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.545e0

MQRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.044e0

QD
type: SiteQuality
SIO_000300: 1.046e1

DP
type: SiteQuality
SIO_000300: 1.931928e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-5
allele num: 65440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.969e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 1.931679e6

QD
type: SiteQuality
SIO_000300: 1.277e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-5
allele num: 65440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.006036217303823e-4
allele num: 9940
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.329916123019571e-4
allele num: 8584
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.277e1

FS
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 1.931679e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.969e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528117359413203e-5
allele num: 65440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.006036217303823e-4
allele num: 9940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.277e1

FS
type: SiteQuality
SIO_000300: 9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.969e0

DP
type: SiteQuality
SIO_000300: 1.931679e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11604
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53261402648357e-5
allele num: 65248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.923798e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.234e1

VQSLOD
type: SiteQuality
SIO_000300: -1.04e-2

FS
type: SiteQuality
SIO_000300: 1.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1