3-58377468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377468
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.490-32C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.490-32C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.442-32C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*84-32C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.541-32C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3257C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.130-32C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.541-32C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.442-32C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.490-32C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-58377476-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377476
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377476
    reference: chr 3
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.490-24T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.490-24T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3249T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.541-24T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.541-24T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*84-24T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.490-24T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.130-24T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.442-24T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.442-24T>C
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

3-58377477-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377477
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377477
    reference: chr 3
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.442-23G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.541-23G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3248G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.490-23G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.442-23G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.490-23G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.490-23G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*84-23G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.541-23G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.130-23G>C
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-58377488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377488
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377488
    reference: chr 3
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.490-12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.442-12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.541-12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.442-12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.490-12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*84-12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3237C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.490-12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.130-12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.541-12C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-58377490-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377490
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377491
    reference: chr 3
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.490-9dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.541-9dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.490-9dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*84-9dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.541-9dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.130-9dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.490-9dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3234dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.442-9dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.442-9dupT
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-58377492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377492
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377492
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.490-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*84-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.442-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.490-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.541-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.541-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.442-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.130-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.490-8G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3233G>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: c.541-8G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-58377503-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377503
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377503
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.493G>C
  hgvsp: ENSP00000305045.5:p.Asp165His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.544G>C
  hgvsp: ENSP00000417915.1:p.Asp182His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*87G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.445G>C
  hgvsp: ENSP00000373222.3:p.Asp149His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.493G>C
  hgvsp: ENSP00000419049.1:p.Asp165His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3222G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.133G>C
  hgvsp: ENSP00000438356.1:p.Asp45His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.445G>C
  hgvsp: ENSP00000417903.1:p.Asp149His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.544G>C
  hgvsp: ENSP00000348472.2:p.Asp182His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.493G>C
  hgvsp: ENSP00000373221.4:p.Asp165His
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp182His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

3-58377520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377520
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377520
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.462G>A
  hgvsp: ENST00000383716.3:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.510G>A
  hgvsp: ENST00000302779.5:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.462G>A
  hgvsp: ENST00000463280.1:c.462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3205G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.510G>A
  hgvsp: ENST00000383715.4:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.561G>A
  hgvsp: ENST00000356151.2:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.150G>A
  hgvsp: ENST00000536660.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.561G>A
  hgvsp: ENST00000484288.1:c.561G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.510G>A
  hgvsp: ENST00000479241.1:c.510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*104G>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys187Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-58377522-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377522
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377522
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.563A>G
  hgvsp: ENSP00000417915.1:p.Tyr188Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*106A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.512A>G
  hgvsp: ENSP00000419049.1:p.Tyr171Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.563A>G
  hgvsp: ENSP00000348472.2:p.Tyr188Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3203A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.464A>G
  hgvsp: ENSP00000417903.1:p.Tyr155Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.512A>G
  hgvsp: ENSP00000305045.5:p.Tyr171Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.464A>G
  hgvsp: ENSP00000373222.3:p.Tyr155Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.512A>G
  hgvsp: ENSP00000373221.4:p.Tyr171Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.152A>G
  hgvsp: ENSP00000438356.1:p.Tyr51Cys
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr188Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

3-58377527-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377527
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377527
    reference: chr 3
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.517T>A
  hgvsp: ENSP00000305045.5:p.Ser173Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.157T>A
  hgvsp: ENSP00000438356.1:p.Ser53Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.517T>A
  hgvsp: ENSP00000419049.1:p.Ser173Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3198T>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.517T>A
  hgvsp: ENSP00000373221.4:p.Ser173Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.568T>A
  hgvsp: ENSP00000348472.2:p.Ser190Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*111T>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.568T>A
  hgvsp: ENSP00000417915.1:p.Ser190Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.469T>A
  hgvsp: ENSP00000417903.1:p.Ser157Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.469T>A
  hgvsp: ENSP00000373222.3:p.Ser157Thr
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser190Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-58377540-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377540
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377540
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.581T>G
  hgvsp: ENSP00000417915.1:p.Phe194Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.530T>G
  hgvsp: ENSP00000373221.4:p.Phe177Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3185T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.482T>G
  hgvsp: ENSP00000417903.1:p.Phe161Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.170T>G
  hgvsp: ENSP00000438356.1:p.Phe57Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.530T>G
  hgvsp: ENSP00000305045.5:p.Phe177Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.530T>G
  hgvsp: ENSP00000419049.1:p.Phe177Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.581T>G
  hgvsp: ENSP00000348472.2:p.Phe194Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*124T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.482T>G
  hgvsp: ENSP00000373222.3:p.Phe161Cys
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe194Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-58377551-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377551
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377551
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.493A>T
  hgvsp: ENSP00000373222.3:p.Ile165Phe
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*135A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.493A>T
  hgvsp: ENSP00000417903.1:p.Ile165Phe
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.181A>T
  hgvsp: ENSP00000438356.1:p.Ile61Phe
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.541A>T
  hgvsp: ENSP00000373221.4:p.Ile181Phe
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.592A>T
  hgvsp: ENSP00000348472.2:p.Ile198Phe
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.541A>T
  hgvsp: ENSP00000419049.1:p.Ile181Phe
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.592A>T
  hgvsp: ENSP00000417915.1:p.Ile198Phe
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.541A>T
  hgvsp: ENSP00000305045.5:p.Ile181Phe
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3174A>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile198Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/3-58377554-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377554
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377554
    reference: chr 3
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.184A>C
  hgvsp: ENSP00000438356.1:p.Lys62Gln
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.595A>C
  hgvsp: ENSP00000417915.1:p.Lys199Gln
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.544A>C
  hgvsp: ENSP00000373221.4:p.Lys182Gln
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.496A>C
  hgvsp: ENSP00000417903.1:p.Lys166Gln
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.496A>C
  hgvsp: ENSP00000373222.3:p.Lys166Gln
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.544A>C
  hgvsp: ENSP00000419049.1:p.Lys182Gln
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*138A>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.595A>C
  hgvsp: ENSP00000348472.2:p.Lys199Gln
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3171A>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.544A>C
  hgvsp: ENSP00000305045.5:p.Lys182Gln
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys199Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

3-58377562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377562
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377562
    reference: chr 3
allele count: 264
allele frequency: 2.174736807420466e-3
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.504G>A
  hgvsp: ENST00000383716.3:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.192G>A
  hgvsp: ENST00000536660.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.552G>A
  hgvsp: ENST00000479241.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.552G>A
  hgvsp: ENST00000383715.4:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*146G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.603G>A
  hgvsp: ENST00000484288.1:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.552G>A
  hgvsp: ENST00000302779.5:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.504G>A
  hgvsp: ENST00000463280.1:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3163G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.603G>A
  hgvsp: ENST00000356151.2:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 9.75e1
  variant carriers: 158
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu201Leu
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

3-58377572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377572
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377572
    reference: chr 3
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.562T>C
  hgvsp: ENST00000479241.1:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.562T>C
  hgvsp: ENST00000383715.4:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3153T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.613T>C
  hgvsp: ENST00000484288.1:c.613T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.562T>C
  hgvsp: ENST00000302779.5:c.562T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.514T>C
  hgvsp: ENST00000383716.3:c.514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.514T>C
  hgvsp: ENST00000463280.1:c.514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.202T>C
  hgvsp: ENST00000536660.1:c.202T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.613T>C
  hgvsp: ENST00000356151.2:c.613T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*156T>C
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.613T>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

3-58377585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377585
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377585
    reference: chr 3
allele count: 10
allele frequency: 8.238589553468446e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.516+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.204+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.564+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.516+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.564+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.615+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*158+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.615+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.564+11G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3140G>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

3-58377585-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377585
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377585
    reference: chr 3
allele count: 4
allele frequency: 3.295435821387378e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.564+11G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3140G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.516+11G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.615+11G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.564+11G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*158+11G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.615+11G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.516+11G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.564+11G>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.204+11G>C
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36734
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

3-58377595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377595
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377595
    reference: chr 3
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.564+21T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.516+21T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.564+21T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.615+21T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.564+21T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.615+21T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3130T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.516+21T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.204+21T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*158+21T>C
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

3-58377609-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377609
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377609
    reference: chr 3
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.564+35A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.564+35A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.615+35A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.564+35A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.204+35A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.516+35A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.615+35A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3116A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*158+35A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.516+35A>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5042
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

3-58377611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377611
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377611
    reference: chr 3
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.615+37G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.204+37G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.564+37G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3114G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.564+37G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*158+37G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.615+37G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.564+37G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.516+37G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.516+37G>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

3-58377613-TAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377613
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377611
    reference: chr 3
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.564+42_564+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.564+42_564+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.516+42_516+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.204+42_204+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.615+42_615+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.615+42_615+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.516+42_516+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.564+42_564+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*158+42_*158+43delAG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3109_389-3108delAG
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: TAG
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

3-58377625-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58377625
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58377626
    reference: chr 3
allele count: 15
allele frequency: 1.237766738732197e-4
allele num: 121186
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-3094dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.564+57dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.564+57dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.516+57dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.615+57dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.564+57dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.615+57dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.204+57dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.516+57dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*158+57dupT
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

3-58380675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380675
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380675
    reference: chr 3
allele count: 3
allele frequency: 2.489626556016598e-5
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-50G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-50G>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21876
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

3-58380682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380682
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380682
    reference: chr 3
allele count: 7
allele frequency: 5.801329333178631e-5
allele num: 120662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-43A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-43A>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-58380689-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380689
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380689
    reference: chr 3
allele count: 2
allele frequency: 1.657165583985152e-5
allele num: 120688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-36C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-36C>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

3-58380689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380689
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380689
    reference: chr 3
allele count: 15
allele frequency: 1.242874187988864e-4
allele num: 120688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-36C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-36C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-58380696-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380696
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380696
    reference: chr 3
allele count: 3
allele frequency: 2.481635894381576e-5
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-29C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-29C>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-58380699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380699
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380699
    reference: chr 3
allele count: 4
allele frequency: 3.306003702724147e-5
allele num: 120992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-26T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-26T>C
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5680
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

3-58380704-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380704
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380704
    reference: chr 3
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-21A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-21A>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-58380705-TTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380705
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380702
    reference: chr 3
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-17_517-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-17_616-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-17_565-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-17_565-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-17_565-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-17_205-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-17_517-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-17_*159-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-17_389-15delCTT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-17_616-15delCTT
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: TTTC
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

3-58380712-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380712
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380712
    reference: chr 3
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-13T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-13T>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

3-58380714-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380714
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380713
    reference: chr 3
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-10delG
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-10delG
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15028
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: TG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS

3-58380718-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380718
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380718
    reference: chr 3
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.565-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*159-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.565-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.616-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.616-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.205-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.517-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.517-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.389-7T>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.565-7T>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.616-7T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-58380729-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380729
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380729
    reference: chr 3
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.521C>G
  hgvsp: ENSP00000373222.3:p.Pro174Arg
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.209C>G
  hgvsp: ENSP00000438356.1:p.Pro70Arg
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.569C>G
  hgvsp: ENSP00000373221.4:p.Pro190Arg
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.569C>G
  hgvsp: ENSP00000419049.1:p.Pro190Arg
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.620C>G
  hgvsp: ENSP00000348472.2:p.Pro207Arg
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.620C>G
  hgvsp: ENSP00000417915.1:p.Pro207Arg
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.393C>G
  hgvsp: ENST00000477308.1:c.393C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.521C>G
  hgvsp: ENSP00000417903.1:p.Pro174Arg
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.569C>G
  hgvsp: ENSP00000305045.5:p.Pro190Arg
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*163C>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro207Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

3-58380733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380733
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380733
    reference: chr 3
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.573C>T
  hgvsp: ENST00000383715.4:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.573C>T
  hgvsp: ENST00000302779.5:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*167C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.397C>T
  hgvsp: ENSP00000420403.1:p.His133Tyr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.624C>T
  hgvsp: ENST00000484288.1:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.624C>T
  hgvsp: ENST00000356151.2:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.525C>T
  hgvsp: ENST00000463280.1:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.525C>T
  hgvsp: ENST00000383716.3:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.213C>T
  hgvsp: ENST00000536660.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.573C>T
  hgvsp: ENST00000479241.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His133Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-58380738-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380738
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380738
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.629A>G
  hgvsp: ENSP00000348472.2:p.Tyr210Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.578A>G
  hgvsp: ENSP00000419049.1:p.Tyr193Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.218A>G
  hgvsp: ENSP00000438356.1:p.Tyr73Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.578A>G
  hgvsp: ENSP00000305045.5:p.Tyr193Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.530A>G
  hgvsp: ENSP00000373222.3:p.Tyr177Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.530A>G
  hgvsp: ENSP00000417903.1:p.Tyr177Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.629A>G
  hgvsp: ENSP00000417915.1:p.Tyr210Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.578A>G
  hgvsp: ENSP00000373221.4:p.Tyr193Cys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.402A>G
  hgvsp: ENST00000477308.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*172A>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr210Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-58380740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380740
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380740
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.532C>T
  hgvsp: ENSP00000373222.3:p.Arg178Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.580C>T
  hgvsp: ENSP00000305045.5:p.Arg194Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.532C>T
  hgvsp: ENSP00000417903.1:p.Arg178Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*174C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.580C>T
  hgvsp: ENSP00000373221.4:p.Arg194Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.631C>T
  hgvsp: ENSP00000417915.1:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.404C>T
  hgvsp: ENSP00000420403.1:p.Ser135Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.580C>T
  hgvsp: ENSP00000419049.1:p.Arg194Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.631C>T
  hgvsp: ENSP00000348472.2:p.Arg211Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.220C>T
  hgvsp: ENSP00000438356.1:p.Arg74Trp
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg211Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-58380743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380743
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380743
    reference: chr 3
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.583G>A
  hgvsp: ENSP00000305045.5:p.Val195Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.634G>A
  hgvsp: ENSP00000417915.1:p.Val212Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*177G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.407G>A
  hgvsp: ENSP00000420403.1:p.Gly136Asp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.583G>A
  hgvsp: ENSP00000373221.4:p.Val195Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.583G>A
  hgvsp: ENSP00000419049.1:p.Val195Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.535G>A
  hgvsp: ENSP00000373222.3:p.Val179Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.535G>A
  hgvsp: ENSP00000417903.1:p.Val179Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.223G>A
  hgvsp: ENSP00000438356.1:p.Val75Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.634G>A
  hgvsp: ENSP00000348472.2:p.Val212Ile
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val212Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-58380747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380747
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380747
    reference: chr 3
allele count: 48
allele frequency: 3.954001779300801e-4
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.638C>T
  hgvsp: ENSP00000348472.2:p.Thr213Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.539C>T
  hgvsp: ENSP00000373222.3:p.Thr180Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.539C>T
  hgvsp: ENSP00000417903.1:p.Thr180Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.587C>T
  hgvsp: ENSP00000419049.1:p.Thr196Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.411C>T
  hgvsp: ENST00000477308.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.638C>T
  hgvsp: ENSP00000417915.1:p.Thr213Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.587C>T
  hgvsp: ENSP00000305045.5:p.Thr196Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.587C>T
  hgvsp: ENSP00000373221.4:p.Thr196Ile
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.227C>T
  hgvsp: ENSP00000438356.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr213Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-58380755-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380755
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380755
    reference: chr 3
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.595A>T
  hgvsp: ENSP00000419049.1:p.Thr199Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.419A>T
  hgvsp: ENSP00000420403.1:p.His140Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.547A>T
  hgvsp: ENSP00000417903.1:p.Thr183Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.595A>T
  hgvsp: ENSP00000373221.4:p.Thr199Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.646A>T
  hgvsp: ENSP00000348472.2:p.Thr216Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.547A>T
  hgvsp: ENSP00000373222.3:p.Thr183Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.595A>T
  hgvsp: ENSP00000305045.5:p.Thr199Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.646A>T
  hgvsp: ENSP00000417915.1:p.Thr216Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*189A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.235A>T
  hgvsp: ENSP00000438356.1:p.Thr79Ser
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr216Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

3-58380774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380774
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380774
    reference: chr 3
allele count: 9
allele frequency: 7.413509060955519e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.254C>T
  hgvsp: ENSP00000438356.1:p.Ala85Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.665C>T
  hgvsp: ENSP00000417915.1:p.Ala222Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.614C>T
  hgvsp: ENSP00000373221.4:p.Ala205Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.566C>T
  hgvsp: ENSP00000417903.1:p.Ala189Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.614C>T
  hgvsp: ENSP00000419049.1:p.Ala205Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.566C>T
  hgvsp: ENSP00000373222.3:p.Ala189Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*12C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.665C>T
  hgvsp: ENSP00000348472.2:p.Ala222Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.614C>T
  hgvsp: ENSP00000305045.5:p.Ala205Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala222Val
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-58380779-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380779
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380779
    reference: chr 3
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*213C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.670C>G
  hgvsp: ENSP00000417915.1:p.Leu224Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.670C>G
  hgvsp: ENSP00000348472.2:p.Leu224Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.571C>G
  hgvsp: ENSP00000417903.1:p.Leu191Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.619C>G
  hgvsp: ENSP00000373221.4:p.Leu207Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.619C>G
  hgvsp: ENSP00000419049.1:p.Leu207Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.571C>G
  hgvsp: ENSP00000373222.3:p.Leu191Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*17C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.619C>G
  hgvsp: ENSP00000305045.5:p.Leu207Val
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.259C>G
  hgvsp: ENSP00000438356.1:p.Leu87Val
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu224Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

3-58380788-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380788
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380788
    reference: chr 3
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.268A>T
  hgvsp: ENSP00000438356.1:p.Met90Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*222A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.580A>T
  hgvsp: ENSP00000373222.3:p.Met194Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.628A>T
  hgvsp: ENSP00000373221.4:p.Met210Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.628A>T
  hgvsp: ENSP00000305045.5:p.Met210Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.679A>T
  hgvsp: ENSP00000348472.2:p.Met227Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.628A>T
  hgvsp: ENSP00000419049.1:p.Met210Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.580A>T
  hgvsp: ENSP00000417903.1:p.Met194Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.679A>T
  hgvsp: ENSP00000417915.1:p.Met227Leu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*26A>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met227Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-58380796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380796
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380796
    reference: chr 3
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.687C>T
  hgvsp: ENST00000484288.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.636C>T
  hgvsp: ENST00000479241.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.636C>T
  hgvsp: ENST00000302779.5:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.636C>T
  hgvsp: ENST00000383715.4:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*34C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.588C>T
  hgvsp: ENST00000463280.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.588C>T
  hgvsp: ENST00000383716.3:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*230C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.276C>T
  hgvsp: ENST00000536660.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.687C>T
  hgvsp: ENST00000356151.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn229Asn
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: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-58380797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380797
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380797
    reference: chr 3
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.688G>A
  hgvsp: ENSP00000417915.1:p.Glu230Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.277G>A
  hgvsp: ENSP00000438356.1:p.Glu93Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.637G>A
  hgvsp: ENSP00000373221.4:p.Glu213Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.637G>A
  hgvsp: ENSP00000419049.1:p.Glu213Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.688G>A
  hgvsp: ENSP00000348472.2:p.Glu230Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.637G>A
  hgvsp: ENSP00000305045.5:p.Glu213Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.589G>A
  hgvsp: ENSP00000373222.3:p.Glu197Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.589G>A
  hgvsp: ENSP00000417903.1:p.Glu197Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*231G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu230Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

3-58380809-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380809
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380809
    reference: chr 3
allele count: 6
allele frequency: 4.943886883868097e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.649T>C
  hgvsp: ENST00000383715.4:c.649T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.700T>C
  hgvsp: ENST00000484288.1:c.700T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.649T>C
  hgvsp: ENST00000302779.5:c.649T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*243T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.601T>C
  hgvsp: ENST00000463280.1:c.601T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.700T>C
  hgvsp: ENST00000356151.2:c.700T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.649T>C
  hgvsp: ENST00000479241.1:c.649T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.601T>C
  hgvsp: ENST00000383716.3:c.601T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.289T>C
  hgvsp: ENST00000536660.1:c.289T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu234Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-58380833-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380833
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380833
    reference: chr 3
allele count: 50
allele frequency: 4.123711340206186e-4
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.309+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.621+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*263+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.669+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.669+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.720+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*67+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.669+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.621+4C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.720+4C>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
hgvs: c.720+4C>G
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-58380834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380834
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380834
    reference: chr 3
allele count: 3
allele frequency: 2.474512521033356e-5
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*67+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.309+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.720+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.669+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.720+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.669+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.621+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.669+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.621+5C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*263+5C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: c.720+5C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-58380864-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380864
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380864
    reference: chr 3
allele count: 13
allele frequency: 1.075945176455009e-4
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.720+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*67+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.720+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.669+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*263+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.621+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.669+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.669+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.621+35C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.309+35C>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10242
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10717
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11393
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-58380873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380873
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380873
    reference: chr 3
allele count: 2
allele frequency: 1.659999004000598e-5
allele num: 120482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.720+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*263+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.669+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.621+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.621+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.720+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.669+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.669+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.309+44T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*67+44T>C
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4270
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

3-58380877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58380877
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58380877
    reference: chr 3
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*263+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.621+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.669+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*67+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.669+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.720+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.621+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.669+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.720+48A>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.309+48A>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

3-58381345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381345
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381345
    reference: chr 3
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.670-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.721-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*68-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.622-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.670-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.622-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.310-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*264-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.670-40C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.721-40C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

3-58381352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381352
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381352
    reference: chr 3
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.670-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.622-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*264-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.670-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.670-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.622-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.721-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*68-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.310-33G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.721-33G>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-58381355-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381355
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381355
    reference: chr 3
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.721-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.622-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.670-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.622-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.721-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*68-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.310-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.670-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.670-30T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*264-30T>C
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

3-58381360-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381360
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381360
    reference: chr 3
allele count: 3
allele frequency: 2.483937206067431e-5
allele num: 120776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.721-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.310-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*264-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.670-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.721-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.670-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.670-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.622-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.622-25A>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*68-25A>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-58381361-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381361
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381361
    reference: chr 3
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.721-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.670-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.622-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*68-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.721-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.310-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.670-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.622-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.670-24C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*264-24C>G
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-58381361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381361
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381361
    reference: chr 3
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.721-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*264-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.670-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.670-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*68-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.622-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.721-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.670-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.310-24C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.622-24C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-58381362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381362
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381362
    reference: chr 3
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.670-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.622-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.310-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*68-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.670-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.721-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.622-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*264-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.670-23G>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.721-23G>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-58381362-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381362
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381363
    reference: chr 3
allele count: 1
allele frequency: 8.277186418792524e-6
allele num: 120814
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.721-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*264-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*68-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.310-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.622-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.622-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.670-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.721-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.670-22dupT
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.670-22dupT
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-58381387-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381387
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381387
    reference: chr 3
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.672A>C
  hgvsp: ENST00000302779.5:c.672A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.723A>C
  hgvsp: ENST00000484288.1:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.624A>C
  hgvsp: ENST00000383716.3:c.624A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.723A>C
  hgvsp: ENST00000356151.2:c.723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.672A>C
  hgvsp: ENST00000383715.4:c.672A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.672A>C
  hgvsp: ENST00000479241.1:c.672A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.624A>C
  hgvsp: ENST00000463280.1:c.624A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*266A>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*70A>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.312A>C
  hgvsp: ENST00000536660.1:c.312A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.723A>C
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-58381423-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381423
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381423
    reference: chr 3
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*106C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.708C>A
  hgvsp: ENSP00000419049.1:p.Asn236Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.708C>A
  hgvsp: ENSP00000373221.4:p.Asn236Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.759C>A
  hgvsp: ENSP00000417915.1:p.Asn253Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.348C>A
  hgvsp: ENSP00000438356.1:p.Asn116Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.23C>A
  hgvsp: ENSP00000418202.1:p.Asn8Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.759C>A
  hgvsp: ENSP00000348472.2:p.Asn253Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.660C>A
  hgvsp: ENSP00000417903.1:p.Asn220Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.708C>A
  hgvsp: ENSP00000305045.5:p.Asn236Lys
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*302C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.660C>A
  hgvsp: ENSP00000373222.3:p.Asn220Lys
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn253Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/3-58381424-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381424
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381424
    reference: chr 3
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.661C>A
  hgvsp: ENSP00000373222.3:p.Pro221Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.24C>A
  hgvsp: ENSP00000418202.1:p.Pro9Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.760C>A
  hgvsp: ENSP00000417915.1:p.Pro254Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.709C>A
  hgvsp: ENSP00000373221.4:p.Pro237Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.661C>A
  hgvsp: ENSP00000417903.1:p.Pro221Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.349C>A
  hgvsp: ENSP00000438356.1:p.Pro117Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.709C>A
  hgvsp: ENSP00000419049.1:p.Pro237Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.709C>A
  hgvsp: ENSP00000305045.5:p.Pro237Thr
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*107C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*303C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.760C>A
  hgvsp: ENSP00000348472.2:p.Pro254Thr
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro254Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-58381424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381424
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381424
    reference: chr 3
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.760C>T
  hgvsp: ENSP00000417915.1:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.709C>T
  hgvsp: ENSP00000373221.4:p.Pro237Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.661C>T
  hgvsp: ENSP00000417903.1:p.Pro221Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.709C>T
  hgvsp: ENSP00000305045.5:p.Pro237Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.349C>T
  hgvsp: ENSP00000438356.1:p.Pro117Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.709C>T
  hgvsp: ENSP00000419049.1:p.Pro237Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.760C>T
  hgvsp: ENSP00000348472.2:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.24C>T
  hgvsp: ENSP00000418202.1:p.Pro9Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.661C>T
  hgvsp: ENSP00000373222.3:p.Pro221Ser
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*303C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro254Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

3-58381436-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381436
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381436
    reference: chr 3
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*315C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.721C>G
  hgvsp: ENSP00000419049.1:p.Gln241Glu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.772C>G
  hgvsp: ENSP00000348472.2:p.Gln258Glu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.673C>G
  hgvsp: ENSP00000373222.3:p.Gln225Glu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.772C>G
  hgvsp: ENSP00000417915.1:p.Gln258Glu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.673C>G
  hgvsp: ENSP00000417903.1:p.Gln225Glu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.36C>G
  hgvsp: ENSP00000418202.1:p.Gln13Glu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.361C>G
  hgvsp: ENSP00000438356.1:p.Gln121Glu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.721C>G
  hgvsp: ENSP00000373221.4:p.Gln241Glu
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.721C>G
  hgvsp: ENSP00000305045.5:p.Gln241Glu
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln258Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-58381441-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381441
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381441
    reference: chr 3
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.726C>A
  hgvsp: ENST00000383715.4:c.726C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.777C>A
  hgvsp: ENST00000356151.2:c.777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.777C>A
  hgvsp: ENST00000484288.1:c.777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*124C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.726C>A
  hgvsp: ENST00000302779.5:c.726C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.678C>A
  hgvsp: ENST00000463280.1:c.678C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.41C>A
  hgvsp: ENST00000479134.1:c.41C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.678C>A
  hgvsp: ENST00000383716.3:c.678C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.726C>A
  hgvsp: ENST00000479241.1:c.726C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*320C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.366C>A
  hgvsp: ENST00000536660.1:c.366C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly259Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-58381450-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381450
    reference: chr 3
allele count: 15
allele frequency: 1.237705459106212e-4
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.786C>A
  hgvsp: ENST00000484288.1:c.786C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.687C>A
  hgvsp: ENST00000463280.1:c.687C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.735C>A
  hgvsp: ENST00000479241.1:c.735C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.735C>A
  hgvsp: ENST00000302779.5:c.735C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.50C>A
  hgvsp: ENST00000479134.1:c.50C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.786C>A
  hgvsp: ENST00000356151.2:c.786C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.687C>A
  hgvsp: ENST00000383716.3:c.687C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.375C>A
  hgvsp: ENST00000536660.1:c.375C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.735C>A
  hgvsp: ENST00000383715.4:c.735C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*133C>A
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*329C>A
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu262Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

3-58381468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381468
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381468
    reference: chr 3
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.68T>C
  hgvsp: ENST00000479134.1:c.68T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*151T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.753T>C
  hgvsp: ENST00000383715.4:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.705T>C
  hgvsp: ENST00000463280.1:c.705T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.705T>C
  hgvsp: ENST00000383716.3:c.705T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.804T>C
  hgvsp: ENST00000484288.1:c.804T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.753T>C
  hgvsp: ENST00000302779.5:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.804T>C
  hgvsp: ENST00000356151.2:c.804T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*347T>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.393T>C
  hgvsp: ENST00000536660.1:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.753T>C
  hgvsp: ENST00000479241.1:c.753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr268Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

3-58381472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381472
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381472
    reference: chr 3
allele count: 35
allele frequency: 2.893040171929244e-4
allele num: 120980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.397C>T
  hgvsp: ENSP00000438356.1:p.Arg133Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.709C>T
  hgvsp: ENSP00000417903.1:p.Arg237Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.808C>T
  hgvsp: ENSP00000417915.1:p.Arg270Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.757C>T
  hgvsp: ENSP00000373221.4:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*351C>T
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.709C>T
  hgvsp: ENSP00000373222.3:p.Arg237Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.757C>T
  hgvsp: ENSP00000305045.5:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.808C>T
  hgvsp: ENSP00000348472.2:p.Arg270Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.757C>T
  hgvsp: ENSP00000419049.1:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.72C>T
  hgvsp: ENSP00000418202.1:p.Arg25Trp
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*155C>T
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Arg270Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-58381477-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58381477
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 58381477
    reference: chr 3
allele count: 1
allele frequency: 8.276501357346223e-6
allele num: 120824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373222
  ensembl transcript: ENST00000383716
  gene symbol: PXK
  hgvsc: ENST00000383716.3:c.714A>C
  hgvsp: ENSP00000373222.3:p.Gln238His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000419049
  ensembl transcript: ENST00000479241
  gene symbol: PXK
  hgvsc: ENST00000479241.1:c.762A>C
  hgvsp: ENSP00000419049.1:p.Gln254His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000420403
  ensembl transcript: ENST00000477308
  gene symbol: PXK
  hgvsc: ENST00000477308.1:c.*160A>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417915
  ensembl transcript: ENST00000484288
  gene symbol: PXK
  hgvsc: ENST00000484288.1:c.813A>C
  hgvsp: ENSP00000417915.1:p.Gln271His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000305045
  ensembl transcript: ENST00000302779
  gene symbol: PXK
  hgvsc: ENST00000302779.5:c.762A>C
  hgvsp: ENSP00000305045.5:p.Gln254His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000438356
  ensembl transcript: ENST00000536660
  gene symbol: PXK
  hgvsc: ENST00000536660.1:c.402A>C
  hgvsp: ENSP00000438356.1:p.Gln134His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000373221
  ensembl transcript: ENST00000383715
  gene symbol: PXK
  hgvsc: ENST00000383715.4:c.762A>C
  hgvsp: ENSP00000373221.4:p.Gln254His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417903
  ensembl transcript: ENST00000463280
  gene symbol: PXK
  hgvsc: ENST00000463280.1:c.714A>C
  hgvsp: ENSP00000417903.1:p.Gln238His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000418202
  ensembl transcript: ENST00000479134
  gene symbol: PXK
  hgvsc: ENST00000479134.1:c.77A>C
  hgvsp: ENSP00000418202.1:p.Gln26His
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000417167
  ensembl transcript: ENST00000468776
  gene symbol: PXK
  hgvsc: ENST00000468776.1:c.*356A>C
  variant of: http://identifiers.org/hgnc/23326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168297
  ensembl protein: ENSP00000348472
  ensembl transcript: ENST00000356151
  gene symbol: PXK
  hgvsc: ENST00000356151.2:c.813A>C
  hgvsp: ENSP00000348472.2:p.Gln271His
  variant of: http://identifiers.org/hgnc/23326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln271His
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 3963
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3358
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5580
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36840
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 66722
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.075e0

QD
type: SiteQuality
SIO_000300: 1.168e1

DP
type: SiteQuality
SIO_000300: 3.09551e6

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3356
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36839
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 66716
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 3.095886e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
all individuals: 5605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36840
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 3121
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1855
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
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: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 3.095893e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.552e1

FS
type: SiteQuality
SIO_000300: 2.789e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.411e0

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.266e0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

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

GenotypeQuality
all individuals: 1856
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5633
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36838
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3964
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3122
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.912e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 1.891e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e0

VQSLOD
type: SiteQuality
SIO_000300: -7.459e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 3.096009e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.087e1

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

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

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

GenotypeQuality
all individuals: 5635
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36838
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3964
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 6.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -1.304e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.27e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

DP
type: SiteQuality
SIO_000300: 3.096093e6

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

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5639
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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MQ
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DP
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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Other
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African
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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allele frequency: 3.844675124951942e-4
allele num: 10404
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Latino
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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MQRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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DP
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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Other
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African
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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QD
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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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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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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African
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FS
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MQ
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 5.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

DP
type: SiteQuality
SIO_000300: 3.096283e6

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2221
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36874
bin: 9.75e1
variant carriers: 263

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

GenotypeQuality
all individuals: 1853
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 11
allele frequency: 9.502418797512094e-4
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.071666162685213e-4
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.652182272639877e-4
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 236
allele frequency: 3.536640191817773e-3
allele num: 66730
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.211e0

QD
type: SiteQuality
SIO_000300: 1.063e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.023e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

DP
type: SiteQuality
SIO_000300: 3.111909e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeDepth
all individuals: 4245
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 3133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5672
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2230
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1861
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3978
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.505e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.09338e6

MQ
type: SiteQuality
SIO_000300: 5.891e1

FS
type: SiteQuality
SIO_000300: 4.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

GenotypeQuality
all individuals: 2230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3977
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

GenotypeQuality
all individuals: 36734
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1859
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 5640
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 9
allele frequency: 5.451241671714113e-4
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.228e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.961e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 3.093499e6

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3977
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5640
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994664748373947e-5
allele num: 66726
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 3.093499e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.961e0

GenotypeQuality
all individuals: 3126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5553
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 36730
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3379
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variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
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: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

QD
type: SiteQuality
SIO_000300: 1.996e1

MQRankSum
type: SiteQuality
SIO_000300: -1.574e0

DP
type: SiteQuality
SIO_000300: 3.091812e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 7.383e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

GenotypeQuality
all individuals: 36723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 171
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 1851
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variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 3043
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3680
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.085526e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.862e0

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 5.728e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

GenotypeQuality
all individuals: 179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 4887
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variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 3677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.083802e6

QD
type: SiteQuality
SIO_000300: 1.561e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.086e0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2992
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3678
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variant carriers: 0

GenotypeQuality
all individuals: 232
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GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 142
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 2220
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 186
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GenotypeQuality
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GenotypeQuality
all individuals: 3978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 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: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

QD
type: SiteQuality
SIO_000300: 2.22e1

DP
type: SiteQuality
SIO_000300: 3.081956e6

FS
type: SiteQuality
SIO_000300: 5.868e0

MQ
type: SiteQuality
SIO_000300: 6.011e1

GenotypeQuality
all individuals: 270
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.25150851070217e-4
allele num: 66622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.123e1

DP
type: SiteQuality
SIO_000300: 3.071003e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5453
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.617e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 2.295517e6

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
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variant carriers: 0

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

GenotypeQuality
all individuals: 3876
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variant carriers: 0

GenotypeQuality
all individuals: 620
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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21879
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2358
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 66448
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: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.341354502604813e-4
allele num: 16124
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.621e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

DP
type: SiteQuality
SIO_000300: 2.304532e6

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 1.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

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

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21878
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 472
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.195019204559534e-5
allele num: 16142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 3.015e0

DP
type: SiteQuality
SIO_000300: 2.315122e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.486e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.791e0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 472
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
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GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5572
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21878
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 10
allele frequency: 8.64304235090752e-4
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.514400938995395e-5
allele num: 66454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.195019204559534e-5
allele num: 16142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.282e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.791e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.486e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 3.015e0

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

DP
type: SiteQuality
SIO_000300: 2.315122e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 8.25e1
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GenotypeQuality
all individuals: 2817
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 5644
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variant carriers: 0

GenotypeQuality
all individuals: 3880
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GenotypeQuality
all individuals: 144
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GenotypeQuality
all individuals: 21869
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 107
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GenotypeQuality
all individuals: 4441
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GenotypeQuality
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GenotypeQuality
all individuals: 14079
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.324984e6

FS
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21869
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 4314
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
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GenotypeQuality
all individuals: 3881
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14442
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.457304337142155e-4
allele num: 16278
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: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.726e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.327733e6

FS
type: SiteQuality
SIO_000300: 1.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

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

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4438
bin: 7.75e1
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GenotypeQuality
all individuals: 3882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
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GenotypeQuality
all individuals: 2361
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 21869
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14738
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
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: 904
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -1.244e0

DP
type: SiteQuality
SIO_000300: 2.330996e6

FS
type: SiteQuality
SIO_000300: 1.621e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

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

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.331325e6

QD
type: SiteQuality
SIO_000300: 1.901e1

MQ
type: SiteQuality
SIO_000300: 5.701e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
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SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

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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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

DP
type: SiteQuality
SIO_000300: 2.333682e6

FS
type: SiteQuality
SIO_000300: 4.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.567e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.75e0

MQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

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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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
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: 6614
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: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.74e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

MQ
type: SiteQuality
SIO_000300: 6.013e1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e0

DP
type: SiteQuality
SIO_000300: 2.33418e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.33533e6

MQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.185e0

MQ
type: SiteQuality
SIO_000300: 5.767e1

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeQuality
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bin: 5.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

Latino
type: Population
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: 906
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.336983e6

QD
type: SiteQuality
SIO_000300: 2.779e1

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.996821684507211e-5
allele num: 66702
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

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

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

QD
type: SiteQuality
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.082e0

VQSLOD
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Other
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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

DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.563e1

VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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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Latino
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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
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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East Asian
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: -7.98e-1

DP
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SIO_000300: 2.337407e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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BaseQRankSum
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MQRankSum
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DP
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

African
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South Asian
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allele num: 16510
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Latino
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allele num: 11578
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.444264604501994e-4
allele num: 66726
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DP
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QD
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

Other
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South Asian
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African
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East Asian
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European (Finnish)
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MQRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9

Latino
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allele frequency: 6.909656244601831e-4
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66728
num of homozygotes: 0

East Asian
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South Asian
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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MQRankSum
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DP
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 10406
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

European (Finnish)
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Other
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African
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South Asian
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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FS
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QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3880
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
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: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 2.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
SIO_000300: 2.337239e6

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 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: 11578
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: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 8.995771987166032e-5
allele num: 66698
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 2.337239e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.415e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

GenotypeQuality
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bin: 3.25e1
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: 50

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
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: 11576
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 49
allele frequency: 7.351176188190111e-4
allele num: 66656
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.49e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
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SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

QD
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SIO_000300: 1.436e1

ClippingRankSum
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SIO_000300: -2.34e-1

VQSLOD
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SIO_000300: 3.43e0

DP
type: SiteQuality
SIO_000300: 2.335806e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.333278e6

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 5.365e0

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-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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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: 13

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

South Asian
type: Population
allele count: 13
allele frequency: 8.0e-4
allele num: 16250
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: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.301666e6

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
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SIO_000300: -1.399e0

InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

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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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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.350176263219741e-4
allele num: 8510
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.966e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e0

QD
type: SiteQuality
SIO_000300: 1.727e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.147e-1

DP
type: SiteQuality
SIO_000300: 2.2753e6

MQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

VQSLOD
type: SiteQuality
SIO_000300: -2.805e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 4.251e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.272221e6

QD
type: SiteQuality
SIO_000300: 9.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

GenotypeQuality
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bin: 2.25e1
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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GenotypeQuality
all individuals: 1836
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.798362e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 4.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.131e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.807179e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

ClippingRankSum
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VQSLOD
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QD
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
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SIO_000300: -3.196e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506114826194349e-5
allele num: 66396
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -3.1e-2

MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

QD
type: SiteQuality
SIO_000300: 1.441e1

DP
type: SiteQuality
SIO_000300: 1.809778e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10234
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Finnish)
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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: 66406
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
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

QD
type: SiteQuality
SIO_000300: 1.328e1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 1.813974e6

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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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: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

FS
type: SiteQuality
SIO_000300: 1.735e0

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
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SIO_000300: 1.66e0

BaseQRankSum
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SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 1.815172e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 1.406e1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10234
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

DP
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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ClippingRankSum
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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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GenotypeQuality
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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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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

South Asian
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ReadPosRankSum
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QD
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DP
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

Other
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 9.723842862699339e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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SIO_000300: 3.87e-1

MQRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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SIO_000300: 2.891e0

ReadPosRankSum
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SIO_000300: 1.25e0

DP
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SIO_000300: 1.82373e6

BaseQRankSum
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SIO_000300: 4.28e0

ClippingRankSum
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SIO_000300: -9.24e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 8.169999999999999e-1

QD
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -4.29e-1

MQRankSum
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SIO_000300: 1.1e-2

BaseQRankSum
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FS
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SIO_000300: 5.649e0

MQ
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VQSLOD
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SIO_000300: 2.0e-2

DP
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SIO_000300: 1.825625e6

ClippingRankSum
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SIO_000300: 4.76e-1

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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bin: 2.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
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ReadPosRankSum
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VQSLOD
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SIO_000300: 2.0e-2

BaseQRankSum
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SIO_000300: 4.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 5.649e0

QD
type: SiteQuality
SIO_000300: 9.01e0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66682
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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DP
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QD
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.999580058791769e-5
allele num: 66676
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BaseQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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ClippingRankSum
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GenotypeDepth
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variant carriers: 7

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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European (Finnish)
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South Asian
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African
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Latino
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East Asian
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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MQ
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DP
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

African
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South Asian
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Latino
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Other
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European (Finnish)
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East Asian
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ClippingRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 1.822099e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.197e0

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
all individuals: 281
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 38207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4447
bin: 9.75e1
variant carriers: 35

South Asian
type: Population
allele count: 6
allele frequency: 3.63901018922853e-4
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.362397820163488e-3
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.403485053327325e-4
allele num: 66570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

DP
type: SiteQuality
SIO_000300: 1.821659e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.228e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.463e0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0