1-242428596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428596
    reference: chr 1
allele count: 2
allele frequency: 1.67838740538091e-5
allele num: 119162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+43G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+43G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+68G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+43G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+43G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+43G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+43G>A
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20311
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-242428603-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428603
    reference: chr 1
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+36G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+61G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+36G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+36G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+36G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+36G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+36G>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

1-242428603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428603
    reference: chr 1
allele count: 2
allele frequency: 1.675154114178504e-5
allele num: 119392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+36G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+36G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+36G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+61G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+36G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+36G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+36G>A
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22045
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-242428604-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428604
    reference: chr 1
allele count: 14
allele frequency: 1.171999263314749e-4
allele num: 119454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+60G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+35G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+35G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+35G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+35G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+35G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+35G>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-242428608-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428608
    reference: chr 1
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+31G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+31G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+31G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+31G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+31G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+56G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+31G>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-242428608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428608
    reference: chr 1
allele count: 25
allele frequency: 2.090091295187774e-4
allele num: 119612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+56G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+31G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+31G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+31G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+31G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+31G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+31G>A
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22875
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

1-242428609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428609
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428609
    reference: chr 1
allele count: 34
allele frequency: 2.842334057849858e-4
allele num: 119620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+30C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+30C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+55C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+30C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+30C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+30C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+30C>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22328
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22979
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-242428610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428610
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428610
    reference: chr 1
allele count: 2
allele frequency: 1.670843776106934e-5
allele num: 119700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+29C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+29C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+29C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+54C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+29C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+29C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+29C>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-242428611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428611
    reference: chr 1
allele count: 1
allele frequency: 8.35282325425994e-6
allele num: 119720
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+28A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+28A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+28A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+28A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+28A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+53A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+28A>G
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

1-242428614-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428614
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428614
    reference: chr 1
allele count: 7
allele frequency: 5.841998965131612e-5
allele num: 119822
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+25T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+25T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+25T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+25T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+25T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+50T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+25T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-242428620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428620
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428620
    reference: chr 1
allele count: 3
allele frequency: 2.500333377783705e-5
allele num: 119984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+19T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+19T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+19T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+19T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+19T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+19T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+44T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-242428621-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428621
    reference: chr 1
allele count: 1
allele frequency: 8.332361224523806e-6
allele num: 120014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.331+18A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*284+18A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.97+18A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.607+18A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.421+18A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*115+18A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+43A>G
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-242428640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428640
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428640
    reference: chr 1
allele count: 12
allele frequency: 9.96446009233733e-5
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.330G>A
  hgvsp: ENST00000442594.2:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+24G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*283G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.420G>A
  hgvsp: ENST00000459864.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.96G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.420G>A
  hgvsp: ENST00000427495.1:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.606G>A
  hgvsp: ENST00000536534.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*114G>A
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 6.75e1
  variant carriers: 0
hgvs: c.606G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

1-242428641-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428641
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428641
    reference: chr 1
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.419A>C
  hgvsp: ENSP00000401285.1:p.Lys140Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+23A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.329A>C
  hgvsp: ENSP00000414188.2:p.Lys110Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*282A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.95A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.419A>C
  hgvsp: ENSP00000438191.1:p.Lys140Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*113A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.605A>C
  hgvsp: ENSP00000440896.1:p.Lys202Thr
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys202Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-242428649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428649
    reference: chr 1
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.87G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.321G>A
  hgvsp: ENST00000442594.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.411G>A
  hgvsp: ENST00000427495.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*105G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*274G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.411G>A
  hgvsp: ENST00000459864.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.582+15G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.597G>A
  hgvsp: ENST00000536534.2:c.597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu199Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-242428675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428675
    reference: chr 1
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*79G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.61G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.385G>A
  hgvsp: ENSP00000438191.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.571G>A
  hgvsp: ENSP00000440132.1:p.Ala191Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.385G>A
  hgvsp: ENSP00000401285.1:p.Ala129Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*248G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.295G>A
  hgvsp: ENSP00000414188.2:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.571G>A
  hgvsp: ENSP00000440896.1:p.Ala191Thr
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala191Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-242428676-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428676
    reference: chr 1
allele count: 4
allele frequency: 3.310052629836815e-5
allele num: 120844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.294A>C
  hgvsp: ENST00000442594.2:c.294A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.384A>C
  hgvsp: ENST00000427495.1:c.384A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.60A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*247A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.384A>C
  hgvsp: ENST00000459864.1:c.384A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*78A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.570A>C
  hgvsp: ENST00000536534.2:c.570A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.570A>C
  hgvsp: ENST00000467561.1:c.570A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr190Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-242428681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428681
    reference: chr 1
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.379G>A
  hgvsp: ENSP00000438191.1:p.Val127Ile
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.565G>A
  hgvsp: ENSP00000440132.1:p.Val189Ile
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.379G>A
  hgvsp: ENSP00000401285.1:p.Val127Ile
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*242G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*73G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.289G>A
  hgvsp: ENSP00000414188.2:p.Val97Ile
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.565G>A
  hgvsp: ENSP00000440896.1:p.Val189Ile
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.55G>A
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43954
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val189Ile
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-242428685-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428685
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428685
    reference: chr 1
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.285T>A
  hgvsp: ENSP00000414188.2:p.Ser95Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*69T>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.51T>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*238T>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.561T>A
  hgvsp: ENSP00000440896.1:p.Ser187Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.561T>A
  hgvsp: ENSP00000440132.1:p.Ser187Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.375T>A
  hgvsp: ENSP00000401285.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.375T>A
  hgvsp: ENSP00000438191.1:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser187Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-242428689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428689
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428689
    reference: chr 1
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.371T>C
  hgvsp: ENSP00000438191.1:p.Val124Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.557T>C
  hgvsp: ENSP00000440896.1:p.Val186Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.371T>C
  hgvsp: ENSP00000401285.1:p.Val124Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*65T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.557T>C
  hgvsp: ENSP00000440132.1:p.Val186Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.281T>C
  hgvsp: ENSP00000414188.2:p.Val94Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*234T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.47T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val186Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

1-242428706-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428706
    reference: chr 1
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.30T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*217T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.264T>C
  hgvsp: ENST00000442594.2:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.354T>C
  hgvsp: ENST00000459864.1:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.540T>C
  hgvsp: ENST00000467561.1:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.540T>C
  hgvsp: ENST00000536534.2:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.354T>C
  hgvsp: ENST00000427495.1:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*48T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn180Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-242428710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428710
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428710
    reference: chr 1
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.350A>G
  hgvsp: ENSP00000401285.1:p.Gln117Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*44A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.260A>G
  hgvsp: ENSP00000414188.2:p.Gln87Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*213A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.350A>G
  hgvsp: ENSP00000438191.1:p.Gln117Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.26A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.536A>G
  hgvsp: ENSP00000440896.1:p.Gln179Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.536A>G
  hgvsp: ENSP00000440132.1:p.Gln179Arg
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln179Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

1-242428712-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428712
    reference: chr 1
allele count: 7
allele frequency: 5.800656302827405e-5
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.534G>A
  hgvsp: ENST00000467561.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.348G>A
  hgvsp: ENST00000459864.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.534G>A
  hgvsp: ENST00000536534.2:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*42G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*211G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.24G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.348G>A
  hgvsp: ENST00000427495.1:c.348G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.258G>A
  hgvsp: ENST00000442594.2:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24078
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser178Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-242428713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428713
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428713
    reference: chr 1
allele count: 3
allele frequency: 2.487685954525101e-5
allele num: 120594
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.533C>T
  hgvsp: ENSP00000440896.1:p.Ser178Leu
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.533C>T
  hgvsp: ENSP00000440132.1:p.Ser178Leu
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*41C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.347C>T
  hgvsp: ENSP00000438191.1:p.Ser116Leu
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.23C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.347C>T
  hgvsp: ENSP00000401285.1:p.Ser116Leu
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*210C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.257C>T
  hgvsp: ENSP00000414188.2:p.Ser86Leu
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser178Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-242428727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428727
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428727
    reference: chr 1
allele count: 3
allele frequency: 2.507480650607646e-5
allele num: 119642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.243G>A
  hgvsp: ENST00000442594.2:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.519G>A
  hgvsp: ENST00000467561.1:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.9G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*27G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.333G>A
  hgvsp: ENST00000427495.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.333G>A
  hgvsp: ENST00000459864.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.519G>A
  hgvsp: ENST00000536534.2:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*196G>A
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu173Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-242428734-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428734
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428735
    reference: chr 1
allele count: 1
allele frequency: 8.429286713758282e-6
allele num: 118634
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.235dupG
  hgvsp: ENSP00000414188.2:p.Glu79GlyfsTer12
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.511dupG
  hgvsp: ENSP00000440132.1:p.Glu171GlyfsTer12
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.325dupG
  hgvsp: ENSP00000401285.1:p.Glu109GlyfsTer12
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.511dupG
  hgvsp: ENSP00000440896.1:p.Glu171GlyfsTer12
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*188dupG
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.325dupG
  hgvsp: ENSP00000438191.1:p.Glu109GlyfsTer12
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*19dupG
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.1dupG
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu171GlyfsTer12
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-242428735-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428735
    reference: chr 1
allele count: 3061
allele frequency: 2.587095792694265e-2
allele num: 118318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.325G>C
  hgvsp: ENSP00000438191.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.511G>C
  hgvsp: ENSP00000440132.1:p.Glu171Gln
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*188G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.1G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.511G>C
  hgvsp: ENSP00000440896.1:p.Glu171Gln
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.235G>C
  hgvsp: ENSP00000414188.2:p.Glu79Gln
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.325G>C
  hgvsp: ENSP00000401285.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*19G>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23065
  bin: 2.75e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 19040
  bin: 2.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 255
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 3.25e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 323
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 6128
  bin: 9.75e1
  variant carriers: 2861
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 4
hgvs: p.Glu171Gln
num of homozygotes: 160
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-242428735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428735
    reference: chr 1
allele count: 19
allele frequency: 1.605841883737048e-4
allele num: 118318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.235G>A
  hgvsp: ENSP00000414188.2:p.Glu79Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.511G>A
  hgvsp: ENSP00000440132.1:p.Glu171Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.325G>A
  hgvsp: ENSP00000438191.1:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.325G>A
  hgvsp: ENSP00000401285.1:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*19G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180287
  ensembl transcript: ENST00000474177
  gene symbol: PLD5
  hgvsc: ENST00000474177.1:n.1G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.511G>A
  hgvsp: ENSP00000440896.1:p.Glu171Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*188G>A
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23065
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19040
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6128
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6571
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu171Lys
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-242428746-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428746
    reference: chr 1
allele count: 1
allele frequency: 8.781790080089925e-6
allele num: 113872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.314A>G
  hgvsp: ENSP00000401285.1:p.Gln105Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.224A>G
  hgvsp: ENSP00000414188.2:p.Gln75Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.500A>G
  hgvsp: ENSP00000440132.1:p.Gln167Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*177A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.314A>G
  hgvsp: ENSP00000438191.1:p.Gln105Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*8A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.500A>G
  hgvsp: ENSP00000440896.1:p.Gln167Arg
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln167Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

1-242428747-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428747
    reference: chr 1
allele count: 2
allele frequency: 1.764788931243823e-5
allele num: 113328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.223C>A
  hgvsp: ENSP00000414188.2:p.Gln75Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*7C>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*176C>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.313C>A
  hgvsp: ENSP00000438191.1:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.499C>A
  hgvsp: ENSP00000440132.1:p.Gln167Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.313C>A
  hgvsp: ENSP00000401285.1:p.Gln105Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.499C>A
  hgvsp: ENSP00000440896.1:p.Gln167Lys
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln167Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

1-242428758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428758
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428758
    reference: chr 1
allele count: 1
allele frequency: 9.338812103100485e-6
allele num: 107080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.220-8T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.496-8T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-8T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*173-8T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.496-8T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.310-8T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.310-8T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27517
  bin: 6.25e1
  variant carriers: 0
hgvs: c.496-8T>C
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-242428788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428788
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428788
    reference: chr 1
allele count: 1
allele frequency: 1.130812375610639e-5
allele num: 88432
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*173-38G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.310-38G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.496-38G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-38G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.310-38G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.220-38G>A
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.496-38G>A
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/1-242428789-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242428789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242428789
    reference: chr 1
allele count: 2
allele frequency: 2.275986070965246e-5
allele num: 87874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.310-39G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.496-39G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.310-39G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-39G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.220-39G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.496-39G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*173-39G>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

1-242451614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451614
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451614
    reference: chr 1
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22864C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+50C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+50C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+50C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+50C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+50C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+50C>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-242451616-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451616
    reference: chr 1
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+48T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+48T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+48T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+48T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+48T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+48T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22866T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

1-242451617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451617
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451617
    reference: chr 1
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+47T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+47T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+47T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+47T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22867T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+47T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+47T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-242451625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451625
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451625
    reference: chr 1
allele count: 84
allele frequency: 6.937103594080339e-4
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+39T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+39T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+39T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+39T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+39T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+39T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22875T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14945
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30469
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8458
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-242451627-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451627
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451627
    reference: chr 1
allele count: 3
allele frequency: 2.476841531678803e-5
allele num: 121122
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+37T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+37T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+37T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+37T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+37T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+37T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22877T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-242451638-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451638
    reference: chr 1
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+26A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+26A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22888A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+26A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+26A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+26A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+26A>G
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

1-242451644-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451644
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451644
    reference: chr 1
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+20T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+20T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+20T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+20T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+20T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+20T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22894T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-242451647-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451647
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451647
    reference: chr 1
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+17G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+17G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22897G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+17G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+17G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+17G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+17G>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-242451649-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451649
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+15C>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+15C>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+15C>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22899C>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+15C>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+15C>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+15C>G
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

1-242451651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451651
    reference: chr 1
allele count: 10
allele frequency: 8.239539904091755e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+13C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22901C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+13C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+13C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+13C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+13C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+13C>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-242451654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451654
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451654
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.495+10A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.219+10A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.309+10A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.495+10A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*172+10A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22904A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.309+10A>G
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

1-242451675-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451675
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.208T>C
  hgvsp: ENSP00000414188.2:p.Ser70Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.298T>C
  hgvsp: ENSP00000401285.1:p.Ser100Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22925T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.484T>C
  hgvsp: ENSP00000440132.1:p.Ser162Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.298T>C
  hgvsp: ENSP00000438191.1:p.Ser100Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.484T>C
  hgvsp: ENSP00000440896.1:p.Ser162Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*161T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  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: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser162Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-242451677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451677
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.206C>T
  hgvsp: ENSP00000414188.2:p.Pro69Leu
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.482C>T
  hgvsp: ENSP00000440132.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*159C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22927C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.296C>T
  hgvsp: ENSP00000401285.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.482C>T
  hgvsp: ENSP00000440896.1:p.Pro161Leu
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.296C>T
  hgvsp: ENSP00000438191.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro161Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-242451678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451678
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.481C>T
  hgvsp: ENSP00000440132.1:p.Pro161Ser
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.295C>T
  hgvsp: ENSP00000401285.1:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.295C>T
  hgvsp: ENSP00000438191.1:p.Pro99Ser
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*158C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22928C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.481C>T
  hgvsp: ENSP00000440896.1:p.Pro161Ser
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.205C>T
  hgvsp: ENSP00000414188.2:p.Pro69Ser
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro161Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-242451684-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451684
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451684
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22934A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.289A>C
  hgvsp: ENSP00000438191.1:p.Thr97Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*152A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.289A>C
  hgvsp: ENSP00000401285.1:p.Thr97Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.475A>C
  hgvsp: ENSP00000440132.1:p.Thr159Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.475A>C
  hgvsp: ENSP00000440896.1:p.Thr159Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.199A>C
  hgvsp: ENSP00000414188.2:p.Thr67Pro
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr159Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/1-242451699-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451699
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451699
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.274T>G
  hgvsp: ENSP00000401285.1:p.Trp92Gly
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.460T>G
  hgvsp: ENSP00000440896.1:p.Trp154Gly
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.184T>G
  hgvsp: ENSP00000414188.2:p.Trp62Gly
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.274T>G
  hgvsp: ENSP00000438191.1:p.Trp92Gly
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*137T>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.460T>G
  hgvsp: ENSP00000440132.1:p.Trp154Gly
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22949T>G
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp154Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-242451700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451700
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451700
    reference: chr 1
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.273T>C
  hgvsp: ENST00000427495.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22950T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*136T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.459T>C
  hgvsp: ENST00000467561.1:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.273T>C
  hgvsp: ENST00000459864.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.183T>C
  hgvsp: ENST00000442594.2:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.459T>C
  hgvsp: ENST00000536534.2:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His153His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-242451701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451701
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451701
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.458A>G
  hgvsp: ENSP00000440896.1:p.His153Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.272A>G
  hgvsp: ENSP00000438191.1:p.His91Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22951A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*135A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.182A>G
  hgvsp: ENSP00000414188.2:p.His61Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.458A>G
  hgvsp: ENSP00000440132.1:p.His153Arg
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.272A>G
  hgvsp: ENSP00000401285.1:p.His91Arg
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43151
  bin: 6.25e1
  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
hgvs: p.His153Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-242451704-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451704
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451705
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*131dupT
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.454dupT
  hgvsp: ENSP00000440896.1:p.Ser152PhefsTer20
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.454dupT
  hgvsp: ENSP00000440132.1:p.Ser152PhefsTer20
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.268dupT
  hgvsp: ENSP00000401285.1:p.Ser90PhefsTer20
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.268dupT
  hgvsp: ENSP00000438191.1:p.Ser90PhefsTer20
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22955dupT
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.178dupT
  hgvsp: ENSP00000414188.2:p.Ser60PhefsTer20
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser152PhefsTer20
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-242451716-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451716
    reference: chr 1
allele count: 10
allele frequency: 8.241441263248116e-5
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*120A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22966A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.443A>C
  hgvsp: ENSP00000440896.1:p.Asp148Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.257A>C
  hgvsp: ENSP00000438191.1:p.Asp86Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.443A>C
  hgvsp: ENSP00000440132.1:p.Asp148Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.167A>C
  hgvsp: ENSP00000414188.2:p.Asp56Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.257A>C
  hgvsp: ENSP00000401285.1:p.Asp86Ala
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp148Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-242451718-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451718
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451718
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22968T>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*118T>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.441T>G
  hgvsp: ENST00000467561.1:c.441T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.441T>G
  hgvsp: ENST00000536534.2:c.441T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.255T>G
  hgvsp: ENST00000427495.1:c.255T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.165T>G
  hgvsp: ENST00000442594.2:c.165T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.255T>G
  hgvsp: ENST00000459864.1:c.255T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val147Val
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-242451724-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451724
    reference: chr 1
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22974G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.435G>T
  hgvsp: ENSP00000440896.1:p.Lys145Asn
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.249G>T
  hgvsp: ENSP00000401285.1:p.Lys83Asn
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*112G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.159G>T
  hgvsp: ENSP00000414188.2:p.Lys53Asn
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.249G>T
  hgvsp: ENSP00000438191.1:p.Lys83Asn
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.435G>T
  hgvsp: ENSP00000440132.1:p.Lys145Asn
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys145Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum

1-242451742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451742
    reference: chr 1
allele count: 1
allele frequency: 8.340422692622062e-6
allele num: 119898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-22992A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.231A>G
  hgvsp: ENST00000427495.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*94A>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.417A>G
  hgvsp: ENST00000536534.2:c.417A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.141A>G
  hgvsp: ENST00000442594.2:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.417A>G
  hgvsp: ENST00000467561.1:c.417A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.231A>G
  hgvsp: ENST00000459864.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu139Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-242451755-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451755
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451755
    reference: chr 1
allele count: 1
allele frequency: 8.420485356775965e-6
allele num: 118758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.218G>C
  hgvsp: ENSP00000438191.1:p.Gly73Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.128G>C
  hgvsp: ENSP00000414188.2:p.Gly43Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.218G>C
  hgvsp: ENSP00000401285.1:p.Gly73Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.404G>C
  hgvsp: ENSP00000440896.1:p.Gly135Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23005G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.404G>C
  hgvsp: ENSP00000440132.1:p.Gly135Ala
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*81G>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly135Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-242451768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451768
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451768
    reference: chr 1
allele count: 1
allele frequency: 8.527184664711099e-6
allele num: 117272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.205T>C
  hgvsp: ENSP00000401285.1:p.Ser69Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23018T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*68T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.115T>C
  hgvsp: ENSP00000414188.2:p.Ser39Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.391T>C
  hgvsp: ENSP00000440132.1:p.Ser131Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.391T>C
  hgvsp: ENSP00000440896.1:p.Ser131Pro
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.205T>C
  hgvsp: ENSP00000438191.1:p.Ser69Pro
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser131Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/1-242451776-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451776
    reference: chr 1
allele count: 2
allele frequency: 1.716885569576788e-5
allele num: 116490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*60T>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.383T>G
  hgvsp: ENSP00000440132.1:p.Phe128Cys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.383T>G
  hgvsp: ENSP00000440896.1:p.Phe128Cys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.107T>G
  hgvsp: ENSP00000414188.2:p.Phe36Cys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.197T>G
  hgvsp: ENSP00000401285.1:p.Phe66Cys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.197T>G
  hgvsp: ENSP00000438191.1:p.Phe66Cys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23026T>G
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23512
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe128Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

1-242451796-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451796
    reference: chr 1
allele count: 1
allele frequency: 8.727678961057096e-6
allele num: 114578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.177C>G
  hgvsp: ENSP00000438191.1:p.Asn59Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.87C>G
  hgvsp: ENSP00000414188.2:p.Asn29Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.177C>G
  hgvsp: ENSP00000401285.1:p.Asn59Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*40C>G
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.363C>G
  hgvsp: ENSP00000440132.1:p.Asn121Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.363C>G
  hgvsp: ENSP00000440896.1:p.Asn121Lys
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23046C>G
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20360
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn121Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-242511551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242511551
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242511551
    reference: chr 1
allele count: 1
allele frequency: 9.955994504291034e-6
allele num: 100442
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.190-7C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.190-7C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.4-7C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.190-7C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.4-7C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.4-7C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.-94-7C>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 0
hgvs: c.190-7C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-242451797-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451797
    reference: chr 1
allele count: 1
allele frequency: 8.733624454148471e-6
allele num: 114500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.362A>C
  hgvsp: ENSP00000440132.1:p.Asn121Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.86A>C
  hgvsp: ENSP00000414188.2:p.Asn29Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.362A>C
  hgvsp: ENSP00000440896.1:p.Asn121Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*39A>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.176A>C
  hgvsp: ENSP00000438191.1:p.Asn59Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.176A>C
  hgvsp: ENSP00000401285.1:p.Asn59Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23047A>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 20211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn121Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-242451802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451802
    reference: chr 1
allele count: 2
allele frequency: 1.754385964912281e-5
allele num: 114000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.171C>T
  hgvsp: ENST00000459864.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*34C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.171C>T
  hgvsp: ENST00000427495.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23052C>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.81C>T
  hgvsp: ENST00000442594.2:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.357C>T
  hgvsp: ENST00000467561.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.357C>T
  hgvsp: ENST00000536534.2:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly119Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

1-242451808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451808
    reference: chr 1
allele count: 3
allele frequency: 2.643684238354571e-5
allele num: 113478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.351T>C
  hgvsp: ENST00000467561.1:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.165T>C
  hgvsp: ENST00000427495.1:c.165T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.75T>C
  hgvsp: ENST00000442594.2:c.75T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23058T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*28T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.165T>C
  hgvsp: ENST00000459864.1:c.165T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.351T>C
  hgvsp: ENST00000536534.2:c.351T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18891
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro117Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-242451812-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451812
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451812
    reference: chr 1
allele count: 1
allele frequency: 8.834234425244708e-6
allele num: 113196
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.347T>C
  hgvsp: ENSP00000440896.1:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.161T>C
  hgvsp: ENSP00000401285.1:p.Ile54Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*24T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23062T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.347T>C
  hgvsp: ENSP00000440132.1:p.Ile116Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.161T>C
  hgvsp: ENSP00000438191.1:p.Ile54Thr
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.71T>C
  hgvsp: ENSP00000414188.2:p.Ile24Thr
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19783
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5227
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile116Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-242451820-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451820
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451820
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 112164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.339G>C
  hgvsp: ENST00000467561.1:c.339G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.153G>C
  hgvsp: ENST00000427495.1:c.153G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.153G>C
  hgvsp: ENST00000459864.1:c.153G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23070G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.63G>C
  hgvsp: ENST00000442594.2:c.63G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.339G>C
  hgvsp: ENST00000536534.2:c.339G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*16G>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4259
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val113Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-242451823-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451823
    reference: chr 1
allele count: 3
allele frequency: 2.687690378068447e-5
allele num: 111620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.336G>T
  hgvsp: ENST00000536534.2:c.336G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.150G>T
  hgvsp: ENST00000427495.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.60G>T
  hgvsp: ENST00000442594.2:c.60G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*13G>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.336G>T
  hgvsp: ENST00000467561.1:c.336G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.150G>T
  hgvsp: ENST00000459864.1:c.150G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23073G>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18405
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9007
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30572
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu112Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-242451823-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451823
    reference: chr 1
allele count: 2
allele frequency: 1.791793585378964e-5
allele num: 111620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.150G>C
  hgvsp: ENST00000459864.1:c.150G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*13G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.336G>C
  hgvsp: ENST00000467561.1:c.336G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.150G>C
  hgvsp: ENST00000427495.1:c.150G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.336G>C
  hgvsp: ENST00000536534.2:c.336G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23073G>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.60G>C
  hgvsp: ENST00000442594.2:c.60G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18405
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu112Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-242451835-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451835
    reference: chr 1
allele count: 16
allele frequency: 1.44819970673956e-4
allele num: 110482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.141-3A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.327-3A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*4-3A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23085A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.327-3A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.51-3A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.141-3A>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16882
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9440
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
hgvs: c.327-3A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

1-242451846-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451846
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451846
    reference: chr 1
allele count: 1
allele frequency: 9.135089706580919e-6
allele num: 109468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.141-14A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.141-14A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.327-14A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.51-14A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23096A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*4-14A>T
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.327-14A>T
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11847
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

1-242451849-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451849
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451849
    reference: chr 1
allele count: 3
allele frequency: 2.782105497440463e-5
allele num: 107832
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.327-17T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.51-17T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.141-17T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23099T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*4-17T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.141-17T>C
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.327-17T>C
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15633
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14130
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS

http://identifiers.org/exac.variant/1-242451850-A-ACAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242451850
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 242451854
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 107834
alternate allele: ACAAC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000314748
  ensembl transcript: ENST00000314833
  gene symbol: PLD5
  hgvsc: ENST00000314833.6:c.*4-23101_*4-23100insGTTG
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440132
  ensembl transcript: ENST00000467561
  gene symbol: PLD5
  hgvsc: ENST00000467561.1:c.327-19_327-18insGTTG
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000401285
  ensembl transcript: ENST00000427495
  gene symbol: PLD5
  hgvsc: ENST00000427495.1:c.141-19_141-18insGTTG
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000414188
  ensembl transcript: ENST00000442594
  gene symbol: PLD5
  hgvsc: ENST00000442594.2:c.51-19_51-18insGTTG
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000440896
  ensembl transcript: ENST00000536534
  gene symbol: PLD5
  hgvsc: ENST00000536534.2:c.327-19_327-18insGTTG
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000438191
  ensembl transcript: ENST00000459864
  gene symbol: PLD5
  hgvsc: ENST00000459864.1:c.141-19_141-18insGTTG
  variant of: http://identifiers.org/hgnc/26879
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180287
  ensembl protein: ENSP00000355503
  ensembl transcript: ENST00000366545
  gene symbol: PLD5
  hgvsc: ENST00000366545.4:c.*4-19_*4-18insGTTG
  variant of: http://identifiers.org/hgnc/26879
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7043
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65716
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.326122354035822e-4
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2687e1

QD
type: SiteQuality
SIO_000300: 1.194e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 5.431e1

DP
type: SiteQuality
SIO_000300: 1.667362e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.264e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

GenotypeQuality
all individuals: 787
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4217
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518418415378542e-5
allele num: 65858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.227e1

DP
type: SiteQuality
SIO_000300: 1.688575e6

MQ
type: SiteQuality
SIO_000300: 5.341e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4217
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036836830757083e-5
allele num: 65858
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.688575e6

VQSLOD
type: SiteQuality
SIO_000300: -1.458e0

MQ
type: SiteQuality
SIO_000300: 5.341e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 7133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41730
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.973045167557066e-4
allele num: 65888
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.035625517812759e-4
allele num: 9656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQ
type: SiteQuality
SIO_000300: 5.411e1

FS
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.691587e6

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.535e1

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1445
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 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: 11418
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.032844453625284e-4
allele num: 9682
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66000
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.699229e6

MQRankSum
type: SiteQuality
SIO_000300: -2.036e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.04e1

FS
type: SiteQuality
SIO_000300: 2.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.537e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

VQSLOD
type: SiteQuality
SIO_000300: -9.109e-1

MQ
type: SiteQuality
SIO_000300: 4.991e1

GenotypeQuality
all individuals: 1456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 939
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.545454545454545e-5
allele num: 66000
num of homozygotes: 0

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

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

African
type: Population
allele count: 19
allele frequency: 1.96240446188804e-3
allele num: 9682
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216841080554879e-4
allele num: 16436
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.537e0

VQSLOD
type: SiteQuality
SIO_000300: -9.109e-1

FS
type: SiteQuality
SIO_000300: 2.493e0

MQRankSum
type: SiteQuality
SIO_000300: -2.036e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

QD
type: SiteQuality
SIO_000300: 1.04e1

MQ
type: SiteQuality
SIO_000300: 4.991e1

DP
type: SiteQuality
SIO_000300: 1.699229e6

GenotypeQuality
all individuals: 7129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4222
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 22
allele frequency: 2.269445017536621e-3
allele num: 9694
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.751927119831815e-4
allele num: 11416
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.258943781942078e-4
allele num: 16436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.545454545454545e-5
allele num: 66000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.375e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 1.702389e6

QD
type: SiteQuality
SIO_000300: 1.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7170
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4190
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.061855670103093e-4
allele num: 9700
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.144e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 1.702045e6

MQ
type: SiteQuality
SIO_000300: 5.767e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.584e1

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7173
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084205402774397e-5
allele num: 16436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66076
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.376e1

FS
type: SiteQuality
SIO_000300: 9.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e0

DP
type: SiteQuality
SIO_000300: 1.702868e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQ
type: SiteQuality
SIO_000300: 5.343e1

VQSLOD
type: SiteQuality
SIO_000300: -1.658e0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7195
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42893
bin: 6.25e1
variant carriers: 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: 7
allele frequency: 1.058617143548485e-4
allele num: 66124
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.031e0

QD
type: SiteQuality
SIO_000300: 1.518e1

MQ
type: SiteQuality
SIO_000300: 5.39e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 1.705284e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.747946163258172e-4
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.447e0

DP
type: SiteQuality
SIO_000300: 1.708834e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 3.296e0

MQ
type: SiteQuality
SIO_000300: 5.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.253e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.602e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.709238e6

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

MQ
type: SiteQuality
SIO_000300: 4.893e1

QD
type: SiteQuality
SIO_000300: 1.166e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 11
allele frequency: 1.656476824383339e-4
allele num: 66406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

MQ
type: SiteQuality
SIO_000300: 5.049e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.118e1

DP
type: SiteQuality
SIO_000300: 1.71631e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.314e-1

GenotypeQuality
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bin: 8.25e1
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
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
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: 2.551e0

VQSLOD
type: SiteQuality
SIO_000300: -1.719e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 9.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.81e-1

DP
type: SiteQuality
SIO_000300: 1.715949e6

MQ
type: SiteQuality
SIO_000300: 5.182e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 1.344e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.06e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.717844e6

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.855e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 2.883e0

BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

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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GenotypeQuality
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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: 8646
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.930045195519749e-4
allele num: 10178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
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: 902
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
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QD
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DP
type: SiteQuality
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MQ
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
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African
type: Population
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.75e1
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
all individuals: 7211
bin: 6.75e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.723119e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 4.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

FS
type: SiteQuality
SIO_000300: 2.464e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.467e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.475e0

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
all individuals: 413
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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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: 4.25e1
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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
all individuals: 294
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.268e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.16e0

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.771e1

DP
type: SiteQuality
SIO_000300: 1.723419e6

FS
type: SiteQuality
SIO_000300: 4.795e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

GenotypeQuality
all individuals: 1427
bin: 7.75e1
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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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.772e0

MQ
type: SiteQuality
SIO_000300: 5.767e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

FS
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.722317e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 4182
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.623e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.215e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.23e1

VQSLOD
type: SiteQuality
SIO_000300: -2.562e0

FS
type: SiteQuality
SIO_000300: 9.938000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 1.721064e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.302e0

GenotypeQuality
all individuals: 43709
bin: 6.25e1
variant carriers: 0

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
all individuals: 919
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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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GenotypeQuality
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 4188
bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011141222523336e-5
allele num: 66420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.957330201605011e-4
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.82370820668693e-4
allele num: 16450
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: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.538e1

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

DP
type: SiteQuality
SIO_000300: 1.721187e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

FS
type: SiteQuality
SIO_000300: 5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

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

GenotypeQuality
all individuals: 595
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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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GenotypeQuality
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GenotypeQuality
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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: 4181
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
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: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21654501216545e-4
allele num: 16440
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.719626e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.517e1

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.194e0

QD
type: SiteQuality
SIO_000300: 1.102e1

VQSLOD
type: SiteQuality
SIO_000300: -1.84e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.5584391904212e-5
allele num: 65812
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.953e1

VQSLOD
type: SiteQuality
SIO_000300: -7.475000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 1.831e0

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.659e0

DP
type: SiteQuality
SIO_000300: 1.704905e6

MQ
type: SiteQuality
SIO_000300: 5.46e1

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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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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
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GenotypeQuality
all individuals: 1400
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535155050660117e-5
allele num: 65140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.387e1

FS
type: SiteQuality
SIO_000300: 5.257e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

DP
type: SiteQuality
SIO_000300: 1.688555e6

QD
type: SiteQuality
SIO_000300: 1.391e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 40187
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 312
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 385
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
all individuals: 21
bin: 1.25e1
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GenotypeQuality
all individuals: 6571
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variant carriers: 4

GenotypeQuality
all individuals: 197
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 856
allele frequency: 1.318424051997659e-2
allele num: 64926
num of homozygotes: 11

South Asian
type: Population
allele count: 87
allele frequency: 5.386329866270431e-3
allele num: 16152
num of homozygotes: 2

Latino
type: Population
allele count: 1809
allele frequency: 1.595238095238095e-1
allele num: 11340
num of homozygotes: 144

East Asian
type: Population
allele count: 202
allele frequency: 2.358710882765063e-2
allele num: 8564
num of homozygotes: 1

African
type: Population
allele count: 36
allele frequency: 3.623917857861889e-3
allele num: 9934
num of homozygotes: 0

Other
type: Population
allele count: 21
allele frequency: 2.34375e-2
allele num: 896
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 50
allele frequency: 7.68521364893944e-3
allele num: 6506
num of homozygotes: 1

QD
type: SiteQuality
SIO_000300: 1.565e1

FS
type: SiteQuality
SIO_000300: 7.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.736201e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

MQ
type: SiteQuality
SIO_000300: 5.39e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-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
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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: 2771
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GenotypeQuality
all individuals: 385
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64926
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.818342151675486e-5
allele num: 11340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

East Asian
type: Population
allele count: 17
allele frequency: 1.985053713218122e-3
allele num: 8564
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.66e-2

DP
type: SiteQuality
SIO_000300: 1.736201e6

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

FS
type: SiteQuality
SIO_000300: 7.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.39e1

QD
type: SiteQuality
SIO_000300: 1.565e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612799174246823e-5
allele num: 62004
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11038
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.746e0

ReadPosRankSum
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.521e0

DP
type: SiteQuality
SIO_000300: 1.586695e6

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQ
type: SiteQuality
SIO_000300: 4.936e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621376224139049e-5
allele num: 61676
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.358087487283825e-5
allele num: 15728
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.577629e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.045e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

MQ
type: SiteQuality
SIO_000300: 5.706e1

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.73190162798753e-5
allele num: 57740
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: -2.394e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.035e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.444647e6

MQ
type: SiteQuality
SIO_000300: 5.092e1

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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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.18435998252512e-5
allele num: 45780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
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MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
type: SiteQuality
SIO_000300: 1.822e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.63e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.23e-1

DP
type: SiteQuality
SIO_000300: 1.032766e6

VQSLOD
type: SiteQuality
SIO_000300: -5.810999999999999e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.202449123425249e-5
allele num: 45404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13706
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5690
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East Asian
type: Population
allele count: 1
allele frequency: 1.610305958132045e-4
allele num: 6210
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.429e1

DP
type: SiteQuality
SIO_000300: 1.027721e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

Other
type: Population
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allele num: 906
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South Asian
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allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.802428e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.817e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.92e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.80373e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ClippingRankSum
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.111e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.537e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

MQ
type: SiteQuality
SIO_000300: 3.899e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1888
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GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 9.75e1
variant carriers: 84

Latino
type: Population
allele count: 23
allele frequency: 1.988587238457548e-3
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.110937406048945e-4
allele num: 66524
num of homozygotes: 0

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

African
type: Population
allele count: 26
allele frequency: 2.513048521167601e-3
allele num: 10346
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.81137e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.078e0

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 3.765e1

QD
type: SiteQuality
SIO_000300: 1.164e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 16494
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.896312029349295e-4
allele num: 10358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.958e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

FS
type: SiteQuality
SIO_000300: 1.3499e1

MQ
type: SiteQuality
SIO_000300: 3.746e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.810703e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43016
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.414e0

QD
type: SiteQuality
SIO_000300: 9.5e0

MQ
type: SiteQuality
SIO_000300: 3.52e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

DP
type: SiteQuality
SIO_000300: 1.820225e6

FS
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43091
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3340
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.883506343713956e-4
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.311e0

FS
type: SiteQuality
SIO_000300: 2.055e0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 3.855e1

VQSLOD
type: SiteQuality
SIO_000300: -2.323e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.021e1

DP
type: SiteQuality
SIO_000300: 1.821211e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 3.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 1.821536e6

VQSLOD
type: SiteQuality
SIO_000300: -2.795e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: -1.834e0

FS
type: SiteQuality
SIO_000300: 5.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.821356e6

VQSLOD
type: SiteQuality
SIO_000300: -4.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.863e0

MQRankSum
type: SiteQuality
SIO_000300: -2.012e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.161e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 3.81e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 6.8e0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43124
bin: 6.25e1
variant carriers: 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: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.15606936416185e-3
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

FS
type: SiteQuality
SIO_000300: 5.618e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.947e0

MQ
type: SiteQuality
SIO_000300: 3.652e1

DP
type: SiteQuality
SIO_000300: 1.82207e6

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8633
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3329
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.647e0

MQ
type: SiteQuality
SIO_000300: 3.832e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 4.421e0

VQSLOD
type: SiteQuality
SIO_000300: -2.978e0

QD
type: SiteQuality
SIO_000300: 1.198e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

DP
type: SiteQuality
SIO_000300: 1.8213e6

GenotypeQuality
all individuals: 2073
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 8639
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1928
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 3.953e1

DP
type: SiteQuality
SIO_000300: 1.821599e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.558e0

VQSLOD
type: SiteQuality
SIO_000300: -3.047e0

FS
type: SiteQuality
SIO_000300: 3.061e0

QD
type: SiteQuality
SIO_000300: 2.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 893
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GenotypeQuality
all individuals: 1928
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variant carriers: 0

GenotypeQuality
all individuals: 393
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 0
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.834e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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QD
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DP
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MQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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DP
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VQSLOD
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QD
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Latino
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European (Non-Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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FS
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QD
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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African
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South Asian
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MQ
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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Other
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FS
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MQRankSum
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VQSLOD
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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MQRankSum
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QD
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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DP
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FS
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MQ
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BaseQRankSum
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SIO_000300: -2.874e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 161
bin: 4.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 9.01e0

MQ
type: SiteQuality
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VQSLOD
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SIO_000300: -3.613e0

FS
type: SiteQuality
SIO_000300: 1.264e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.776531e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16110
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.523925632429137e-4
allele num: 6562
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65172
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 2.65e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 2.217e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552553951249806e-5
allele num: 64410
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: 8390
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 3.5653e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.752e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.663597e6

QD
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 2.475e1

VQSLOD
type: SiteQuality
SIO_000300: -1.204e1

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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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.125e-5
allele num: 64000
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.628977e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 5.863e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 2.625e1

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: -5.254e0

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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GenotypeQuality
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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)
type: Population
allele count: 1
allele frequency: 1.586344744439862e-5
allele num: 63038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.184e0

FS
type: SiteQuality
SIO_000300: 4.043e0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

DP
type: SiteQuality
SIO_000300: 1.581194e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.613e0

MQ
type: SiteQuality
SIO_000300: 3.234e1

QD
type: SiteQuality
SIO_000300: 5.78e0

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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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: 6088
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12038
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.808252866080793e-5
allele num: 55302
num of homozygotes: 0

Other
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: 10016
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.494e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.157e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.301805e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 63024
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.03950103950104e-4
allele num: 9620
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8168
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 3.091190108191654e-4
allele num: 6470
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 2.674750356633381e-4
allele num: 11216
num of homozygotes: 0

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

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.367e1

GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.603489192482843e-5
allele num: 62364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 3.523e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

QD
type: SiteQuality
SIO_000300: 1.688e1

VQSLOD
type: SiteQuality
SIO_000300: -3.61e0

DP
type: SiteQuality
SIO_000300: 1.553712e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
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: 3.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.339e0

MQ
type: SiteQuality
SIO_000300: 3.929e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 2.485e1

DP
type: SiteQuality
SIO_000300: 1.535008e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.067235859124867e-4
allele num: 9370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.249285157265401e-5
allele num: 61552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

QD
type: SiteQuality
SIO_000300: 5.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 1.523286e6

FS
type: SiteQuality
SIO_000300: 6.873e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

VQSLOD
type: SiteQuality
SIO_000300: -2.944e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 3.984e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.249285157265401e-5
allele num: 61552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.873e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 5.71e0

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.944e0

DP
type: SiteQuality
SIO_000300: 1.523286e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.308e0

MQ
type: SiteQuality
SIO_000300: 3.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
all individuals: 1397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 931
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variant carriers: 0

GenotypeQuality
all individuals: 29805
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.623725033616477e-4
allele num: 60982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14064
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.490834e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.108e1

MQ
type: SiteQuality
SIO_000300: 3.926e1

VQSLOD
type: SiteQuality
SIO_000300: -2.573e0

GenotypeQuality
all individuals: 874
bin: 7.75e1
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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variant carriers: 1

GenotypeQuality
all individuals: 239
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GenotypeQuality
all individuals: 323
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GenotypeQuality
all individuals: 931
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60476
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.18105031215571e-5
allele num: 10892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.469081e6

QD
type: SiteQuality
SIO_000300: 7.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.608e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.453e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.036e1

GenotypeQuality
all individuals: 645
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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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: 828
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GenotypeQuality
all individuals: 515
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.788622420524261e-4
allele num: 10758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 4.136e1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.265e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

DP
type: SiteQuality
SIO_000300: 1.401296e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 3.015e0