12-42717583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717583
    reference: chr 12
allele count: 1
allele frequency: 3.205128205128205e-3
allele num: 312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12102C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+238G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1335G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+287G>A
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-42717612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717612
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717612
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+258C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1364C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+209C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12073G>A
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-42717627-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717627
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717627
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 1216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12058A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+194T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1379T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+243T>A
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-42717637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717637
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717637
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 1524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1389C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12048G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+184C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+233C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 39078
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

12-42717641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717641
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717641
    reference: chr 12
allele count: 20
allele frequency: 1.230012300123001e-2
allele num: 1626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12044C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+180G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+229G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1393G>A
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 7.5e0
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39022
  bin: 2.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35547
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6316
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-42717642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717642
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717642
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 2064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12043G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+228C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+179C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1394C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7692
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36285
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-42717647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717647
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717647
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 2624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+223C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12038G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1399C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+174C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

12-42717659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717659
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717659
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 4150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12026C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+162G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+211G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1411G>A
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19915
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33480
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
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genotype quality: GenotypeQuality
  all individuals: 31710
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1959
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genotype quality: GenotypeQuality
  all individuals: 1637
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-42717660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717660
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717660
    reference: chr 12
allele count: 1
allele frequency: 2.323420074349442e-4
allele num: 4304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+161G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1412G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+210G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12025C>T
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17586
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-42717665-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717665
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 5436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1417A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12020T>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+156A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+205A>G
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30481
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23340
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

12-42717673-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717673
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717673
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 7430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-12012C>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+148G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1425G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+197G>C
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27075
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

12-42717687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717687
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717687
    reference: chr 12
allele count: 1
allele frequency: 7.926442612555485e-5
allele num: 12616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1439G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11998C>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+183G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.391G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+134G>C
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 171
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

12-42717687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717687
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717687
    reference: chr 12
allele count: 3
allele frequency: 2.377932783766646e-4
allele num: 12616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+183G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.391G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11998C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+134G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1439G>A
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34113
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-42717688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717688
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 13580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.390C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11997G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+182C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+133C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1440C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35060
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 72
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genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

12-42717708-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717708
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717708
    reference: chr 12
allele count: 1
allele frequency: 3.206567049317001e-5
allele num: 31186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+162C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+113C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11977G>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1460C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.370C>G
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34261
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 953
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-42717776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717776
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11909G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+94C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+45C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.302C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1528C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
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genotype depth: GenotypeDepth
  all individuals: 2843
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-42717786-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717786
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717786
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.292A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11899T>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+84A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+35A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1538A>G
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  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: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-42717787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717787
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717787
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1539G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+83G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+34G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11898C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.291G>A
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-42717789-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717789
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717789
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11896C>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+32G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.289G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1541G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+81G>C
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6227
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-42717793-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717793
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717793
    reference: chr 12
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11892T>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+77A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+28A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.285A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1545A>G
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

12-42717795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717795
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717795
    reference: chr 12
allele count: 221
allele frequency: 1.820518312272435e-3
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+75C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.283C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11890G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+26C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1547C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 9.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29898
  bin: 9.75e1
  variant carriers: 218
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6224
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 3
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-42717804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717804
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717804
    reference: chr 12
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11881C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+66G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.274G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+17G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1556G>A
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29818
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

12-42717805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717805
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717805
    reference: chr 12
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.273C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11880G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+65C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+16C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1557C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-42717806-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717806
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+64T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11879A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+15T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.272T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1558T>C
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14180
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29815
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-42717811-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717811
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717811
    reference: chr 12
allele count: 32124
allele frequency: 2.646433690870446e-1
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1563T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11874A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+59T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.84+10T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.267T>A
  variant of: http://identifiers.org/hgnc/29620
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 994
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 8.75e1
  variant carriers: 1352
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 6.75e1
  variant carriers: 834
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 4.75e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 9.25e1
  variant carriers: 1440
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 3.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 4.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 733
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 5.25e1
  variant carriers: 491
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 8.25e1
  variant carriers: 1217
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.75e1
  variant carriers: 1078
genotype depth: GenotypeDepth
  all individuals: 17861
  bin: 9.75e1
  variant carriers: 17659
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.75e1
  variant carriers: 637
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5999
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31823
  bin: 9.75e1
  variant carriers: 27300
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 4781
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-42717822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717822
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717822
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.83G>A
  hgvsp: ENSP00000266529.3:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.256G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+48G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1574G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11863C>T
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg28Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-42717823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717823
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717823
    reference: chr 12
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+47C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11862G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.255C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.82C>T
  hgvsp: ENSP00000266529.3:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1575C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg28Trp
num of homozygotes: 1
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-42717828-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717828
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.250T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1580T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+42T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11857A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.77T>A
  hgvsp: ENSP00000266529.3:p.Leu26Ter
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7346
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu26Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-42717830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717830
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717830
    reference: chr 12
allele count: 13
allele frequency: 1.070769636267791e-4
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.248C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1582C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11855G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.75C>T
  hgvsp: ENST00000266529.3:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+40C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26590
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp25Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

12-42717832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717832
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717832
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.73G>A
  hgvsp: ENSP00000266529.3:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.246G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1584G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+38G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11853C>T
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp25Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-42717834-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717834
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717834
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.71A>G
  hgvsp: ENSP00000266529.3:p.Asn24Ser
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11851T>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+36A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1586A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.244A>G
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn24Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-42717835-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717835
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717835
    reference: chr 12
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.243A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+35A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.70A>G
  hgvsp: ENSP00000266529.3:p.Asn24Asp
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1587A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11850T>C
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26610
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn24Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

12-42717839-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717839
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717839
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+31A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.66A>G
  hgvsp: ENST00000266529.3:c.66A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11846T>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.239A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1591A>G
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26610
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr22Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/12-42717842-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717842
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717841
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+27delT
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.235delT
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11842delA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.62delT
  hgvsp: ENSP00000266529.3:p.Leu21ArgfsTer17
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1595delT
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11308
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7334
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu21ArgfsTer17
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: CA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

12-42717844-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717844
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717844
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.234C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11841G>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1596C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+26C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.61C>G
  hgvsp: ENSP00000266529.3:p.Leu21Val
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7334
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu21Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-42717847-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717847
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717847
    reference: chr 12
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11838A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.58T>C
  hgvsp: ENSP00000266529.3:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1599T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+23T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.231T>C
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser20Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-42717848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717848
    reference: chr 12
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.57T>C
  hgvsp: ENST00000266529.3:c.57T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+22T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.230T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11837A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1600T>C
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11308
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe19Phe
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

12-42717857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717857
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717857
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11828G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1609C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.48C>T
  hgvsp: ENST00000266529.3:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.221C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+13C>T
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn16Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

12-42717858-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717858
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717858
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11827T>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1610A>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+12A>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.47A>T
  hgvsp: ENSP00000266529.3:p.Asn16Ile
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.220A>T
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn16Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-42717859-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717859
    reference: chr 12
allele count: 10
allele frequency: 8.23696089090969e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.46A>G
  hgvsp: ENSP00000266529.3:p.Asn16Asp
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.219A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+11A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11826T>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1611A>G
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7326
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Asn16Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-42717866-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717866
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717866
    reference: chr 12
allele count: 84
allele frequency: 6.919047148364139e-4
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.39T>C
  hgvsp: ENST00000266529.3:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1618T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-40+4T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.212T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11819A>G
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 7.75e1
  variant carriers: 0
hgvs: c.-40+4T>C
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

12-42717872-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717872
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717872
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.33A>G
  hgvsp: ENST00000266529.3:c.33A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1624A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.206A>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11813T>C
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.-42A>G
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-42717876-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717876
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11809C>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.29G>C
  hgvsp: ENSP00000266529.3:p.Ser10Thr
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1628G>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.202G>C
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser10Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

12-42717897-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717897
    reference: chr 12
allele count: 80
allele frequency: 6.59043727551323e-4
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.181G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-67G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.8G>A
  hgvsp: ENSP00000266529.3:p.Gly3Asp
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1649G>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11788C>T
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.75e1
  variant carriers: 6
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: 1957
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 11318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4798
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly3Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-42717911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717911
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717911
    reference: chr 12
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11774A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-5T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1663T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-5T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-5T>C
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: c.-2-5T>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-42717927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717927
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717927
    reference: chr 12
allele count: 3
allele frequency: 2.474267616785431e-5
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-21T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1679T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11758A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-21T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-21T>C
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7145
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

12-42717930-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717930
    reference: chr 12
allele count: 6
allele frequency: 4.948698492296526e-5
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11755A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-24T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1682T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-24T>C
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-24T>C
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-42717930-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717930
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717930
    reference: chr 12
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-24T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-24T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11755A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-24T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1682T>A
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-42717931-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717931
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717931
    reference: chr 12
allele count: 4
allele frequency: 3.300057751010643e-5
allele num: 121210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-25C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11754G>C
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-25C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1683C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-25C>G
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7126
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-42717933-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717933
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717933
    reference: chr 12
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11752A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-27T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1685T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-27T>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-27T>A
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-42717938-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717938
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717938
    reference: chr 12
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1690C>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-32C>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11747G>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-32C>A
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-32C>A
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-42717948-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717948
    reference: chr 12
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-42C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-42C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-42C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1700C>G
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11737G>C
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-42717949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717949
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717949
    reference: chr 12
allele count: 7
allele frequency: 5.805274506551667e-5
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-43C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1701C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-43C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-43C>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11736G>A
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6199
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7098
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17796
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-42717953-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717953
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717953
    reference: chr 12
allele count: 1
allele frequency: 8.827995338818462e-6
allele num: 113276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-47G>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11732C>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-47G>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1705G>T
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-47G>T
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-42717953-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717953
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717954
    reference: chr 12
allele count: 210
allele frequency: 1.853879021151877e-3
allele num: 113276
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1706dupA
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-48dupA
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-48dupA
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-48dupA
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11725dupT
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 1.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 2.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 3.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 1.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 10077
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.75e1
  variant carriers: 35
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-42717953-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42717953
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42717955
    reference: chr 12
allele count: 2
allele frequency: 1.765599067763692e-5
allele num: 113276
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl transcript: ENST00000548022
  gene symbol: ZCRB1
  hgvsc: ENST00000548022.1:n.172-49_172-48dupAA
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000446732
  ensembl transcript: ENST00000552673
  gene symbol: ZCRB1
  hgvsc: ENST00000552673.1:c.-76-49_-76-48dupAA
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-11726_35-11725dupTT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000448780
  ensembl transcript: ENST00000552235
  gene symbol: ZCRB1
  hgvsc: ENST00000552235.1:c.-39-1707_-39-1706dupAA
  variant of: http://identifiers.org/hgnc/29620
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000139168
  ensembl protein: ENSP00000266529
  ensembl transcript: ENST00000266529
  gene symbol: ZCRB1
  hgvsc: ENST00000266529.3:c.-2-49_-2-48dupAA
  variant of: http://identifiers.org/hgnc/29620
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6718
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

12-42726454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726454
    reference: chr 12
allele count: 1
allele frequency: 9.000576036866359e-6
allele num: 111104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-42-8C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-42-8C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-42-8C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-42-8C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.53-8C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3231C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-42-8C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+804C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2716C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3231C>T
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.53-8C>T
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

12-42726476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726476
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726476
    reference: chr 12
allele count: 1
allele frequency: 9.094381491114789e-6
allele num: 109958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+826C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-28C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.67C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2738C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-28C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3209C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3209C>T
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-42726477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726477
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726477
    reference: chr 12
allele count: 4
allele frequency: 3.641594289980153e-5
allele num: 109842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-27G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.68G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-27G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3208G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2739G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+827G>A
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-42726481-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726481
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726481
    reference: chr 12
allele count: 1
allele frequency: 9.126752336448597e-6
allele num: 109568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-23A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-23A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-23A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-23A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-23A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.72A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2743A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3204A>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+831A>T
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-42726487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726487
    reference: chr 12
allele count: 4
allele frequency: 3.673904258055035e-5
allele num: 108876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-17A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2749A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.78A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-17A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+837A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-17A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-17A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3198A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-17A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3198A>G
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

12-42726497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726497
    reference: chr 12
allele count: 1
allele frequency: 9.319490783023615e-6
allele num: 107302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.88G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-7G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-7G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+847G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2759G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3188G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-42726499-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726499
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726499
    reference: chr 12
allele count: 1
allele frequency: 9.350688210652304e-6
allele num: 106944
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-5A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+849A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-5A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-5A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.90A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2761A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3186A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3186A>G
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-42726502-C-CACTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726506
    reference: chr 12
allele count: 3
allele frequency: 2.827041595205337e-5
allele num: 106118
alternate allele: CACTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3182_-20-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3182_35-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3182_-20-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-1_1insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2765_-5+2766insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3182_50-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3182_-20-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3182_-20-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3182_-20-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-1_1insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-1_1insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.94_95insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-1_1insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-1_1insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3182_-20-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3182_59-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+853_-21+854insCTTA
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3182_73-3181insCTTA
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-1_1insCTTA
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-42726502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726502
    reference: chr 12
allele count: 1
allele frequency: 9.423471984017792e-6
allele num: 106118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-2C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.93C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-2C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+852C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-2C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2764C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3183C>T
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3183C>T
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-2C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-42726503-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726503
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726503
    reference: chr 12
allele count: 1
allele frequency: 9.466648995588541e-6
allele num: 105634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+853A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2765A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.94A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.-1A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.-1A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3182A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.-1A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3182A>G
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17897
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.94A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

12-42726507-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726508
    reference: chr 12
allele count: 3
allele frequency: 2.858068326886801e-5
allele num: 104966
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.1+3_1+4insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3178_35-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3178_-20-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.1+3_1+4insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3178_-20-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3178_-20-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3178_59-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.1+3_1+4insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3178_-20-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.1+3_1+4insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.1+3_1+4insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.95+3_95+4insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3178_50-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3178_-20-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3178_73-3177insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+857_-21+858insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2769_-5+2770insT
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3178_-20-3177insT
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1+3_1+4insT
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-42726507-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726507
    reference: chr 12
allele count: 2
allele frequency: 1.905378884591201e-5
allele num: 104966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.95+3A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.1+3A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2769A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.1+3A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.1+3A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.1+3A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.1+3A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+857A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3178A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3178A>G
  variant of: http://identifiers.org/hgnc/19369
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.95+3A>G
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-42726516-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726516
    reference: chr 12
allele count: 1
allele frequency: 9.707229944862934e-6
allele num: 103016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.95+12A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.1+12A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2778A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+866A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.1+12A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.1+12A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.1+12A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3169A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.1+12A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3169A>G
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-42726518-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726518
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726518
    reference: chr 12
allele count: 1
allele frequency: 9.765434268861936e-6
allele num: 102402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.1+14A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.1+14A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.1+14A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+868A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.1+14A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.1+14A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.95+14A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3167A>G
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2780A>G
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

12-42726522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42726522
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 42726522
    reference: chr 12
allele count: 1
allele frequency: 9.836130072984085e-6
allele num: 101666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000550535
  gene symbol: PPHLN1
  hgvsc: ENST00000550535.1:n.50-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000549774
  gene symbol: PPHLN1
  hgvsc: ENST00000549774.1:n.73-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000393965
  ensembl transcript: ENST00000432191
  gene symbol: PPHLN1
  hgvsc: ENST00000432191.2:c.-20-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000552202
  gene symbol: PPHLN1
  hgvsc: ENST00000552202.1:n.95+18G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000322048
  ensembl transcript: ENST00000317560
  gene symbol: PPHLN1
  hgvsc: ENST00000317560.9:c.1+18G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl transcript: ENST00000551406
  gene symbol: PPHLN1
  hgvsc: ENST00000551406.1:n.59-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000256678
  ensembl transcript: ENST00000256678
  gene symbol: PPHLN1
  hgvsc: ENST00000256678.8:c.-5+2784G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450274
  ensembl transcript: ENST00000546750
  gene symbol: PPHLN1
  hgvsc: ENST00000546750.1:c.1+18G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449331
  ensembl transcript: ENST00000552761
  gene symbol: PPHLN1
  hgvsc: ENST00000552761.1:c.1+18G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000390681
  ensembl transcript: ENST00000449194
  gene symbol: PPHLN1
  hgvsc: ENST00000449194.2:c.-20-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000351066
  ensembl transcript: ENST00000358314
  gene symbol: PPHLN1
  hgvsc: ENST00000358314.7:c.-20-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378947
  ensembl transcript: ENST00000395580
  gene symbol: PPHLN1
  hgvsc: ENST00000395580.3:c.1+18G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000449772
  ensembl transcript: ENST00000547847
  gene symbol: PPHLN1
  hgvsc: ENST00000547847.1:c.-21+872G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000450346
  ensembl transcript: ENST00000551723
  gene symbol: PPHLN1
  hgvsc: ENST00000551723.1:c.1+18G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000338510
  ensembl transcript: ENST00000337898
  gene symbol: PPHLN1
  hgvsc: ENST00000337898.6:c.-20-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000448645
  ensembl transcript: ENST00000552429
  gene symbol: PPHLN1
  hgvsc: ENST00000552429.1:c.-20-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000447168
  ensembl transcript: ENST00000549190
  gene symbol: PPHLN1
  hgvsc: ENST00000549190.1:c.35-3163G>A
  variant of: http://identifiers.org/hgnc/19369
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134283
  ensembl protein: ENSP00000378935
  ensembl transcript: ENST00000395568
  gene symbol: PPHLN1
  hgvsc: ENST00000395568.2:c.-20-3163G>A
  variant of: http://identifiers.org/hgnc/19369
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.172839506172839e-3
allele num: 162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.039e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

DP
type: SiteQuality
SIO_000300: 5.8283e4

QD
type: SiteQuality
SIO_000300: 6.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.464e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 558
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.0034e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

GenotypeQuality
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.056e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.379999999999999e-2

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.28471e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.06e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 1.51651e5

GenotypeQuality
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bin: 2.75e1
variant carriers: 10

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 30

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 6.333333333333334e-2
allele num: 300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.690000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.625e5

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.052e0

MQ
type: SiteQuality
SIO_000300: 6.153e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.73281e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.52e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.749e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.002e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.74e-2

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.334e1

DP
type: SiteQuality
SIO_000300: 1.94883e5

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.49785e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.419999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.864e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

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: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.872659176029963e-3
allele num: 534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2402
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.238e0

QD
type: SiteQuality
SIO_000300: 6.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 2.5527e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.66e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

DP
type: SiteQuality
SIO_000300: 2.78561e5

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.02e-2

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.14412e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.058e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1264
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.405283867341203e-4
allele num: 7116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.15e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.810567734682406e-4
allele num: 7116
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 7.911392405063291e-4
allele num: 1264
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.15e-2

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 8.75e1
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7632
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1372
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 3048
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 17428
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2046
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Latino
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allele frequency: 4.849660523763337e-4
allele num: 2062
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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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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bin: 6.25e1
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.377e0

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -1.009e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6232
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 66726
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.991e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

QD
type: SiteQuality
SIO_000300: 1.725e1

VQSLOD
type: SiteQuality
SIO_000300: -1.662e0

DP
type: SiteQuality
SIO_000300: 3.112405e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 7.25e1
variant carriers: 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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 3.112589e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

GenotypeQuality
all individuals: 2330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29880
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 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: 16506
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

FS
type: SiteQuality
SIO_000300: 2.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.614e1

VQSLOD
type: SiteQuality
SIO_000300: -1.25e0

DP
type: SiteQuality
SIO_000300: 3.112797e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-1

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

GenotypeQuality
all individuals: 3039
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29881
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2333
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 1.647e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
type: SiteQuality
SIO_000300: 3.113008e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 211
allele frequency: 2.027676340572747e-2
allele num: 10406
num of homozygotes: 3

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.045949214026602e-4
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

QD
type: SiteQuality
SIO_000300: 1.391e1

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

FS
type: SiteQuality
SIO_000300: 7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 3.119597e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.319e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.23e-2

GenotypeQuality
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14176
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 6.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

VQSLOD
type: SiteQuality
SIO_000300: -1.234e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

DP
type: SiteQuality
SIO_000300: 3.113042e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.438e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

QD
type: SiteQuality
SIO_000300: 1.271e1

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29818
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2334
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: 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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
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

MQ
type: SiteQuality
SIO_000300: 5.904e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 3.113099e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

FS
type: SiteQuality
SIO_000300: 6.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.414e1

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

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

GenotypeQuality
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3045
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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: 8654
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.976e0

DP
type: SiteQuality
SIO_000300: 3.112994e6

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.218e1

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2123
bin: 7.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 13931
bin: 6.25e1
variant carriers: 5

East Asian
type: Population
allele count: 2737
allele frequency: 3.165625722877631e-1
allele num: 8646
num of homozygotes: 436

European (Non-Finnish)
type: Population
allele count: 14688
allele frequency: 2.201174919074451e-1
allele num: 66728
num of homozygotes: 1651

South Asian
type: Population
allele count: 4396
allele frequency: 2.662628709872804e-1
allele num: 16510
num of homozygotes: 615

European (Finnish)
type: Population
allele count: 1055
allele frequency: 1.59510130027215e-1
allele num: 6614
num of homozygotes: 99

Other
type: Population
allele count: 253
allele frequency: 2.786343612334802e-1
allele num: 908
num of homozygotes: 37

African
type: Population
allele count: 5235
allele frequency: 5.032686021918862e-1
allele num: 10402
num of homozygotes: 1335

Latino
type: Population
allele count: 3760
allele frequency: 3.247538434962861e-1
allele num: 11578
num of homozygotes: 608

MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.44e-2

FS
type: SiteQuality
SIO_000300: 5.81e-1

DP
type: SiteQuality
SIO_000300: 4.344278e6

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

QD
type: SiteQuality
SIO_000300: 1.587e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.224e0

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.271981e6

FS
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

QD
type: SiteQuality
SIO_000300: 1.418e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 3886
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11305
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7352
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4801
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3344
bin: 8.25e1
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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.497e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.864e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

DP
type: SiteQuality
SIO_000300: 2.271919e6

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

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

GenotypeQuality
all individuals: 1427
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26594
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
type: Population
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South Asian
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African
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Latino
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Other
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European (Non-Finnish)
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DP
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FS
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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allele frequency: 1.153402537485583e-3
allele num: 10404
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Latino
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allele frequency: 8.637070305752289e-5
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num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 3344
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1428
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11307
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.4983967155144e-4
allele num: 66738
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.266e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 2.2705e6

GenotypeQuality
all individuals: 3345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.25e1
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GenotypeQuality
all individuals: 0
bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 8.75e1
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GenotypeQuality
all individuals: 7317
bin: 9.75e1
variant carriers: 84

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: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 84
allele frequency: 7.255139056831923e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 2.273128e6

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

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

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
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GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 11328
bin: 6.75e1
variant carriers: 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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

FS
type: SiteQuality
SIO_000300: 6.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.912e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.265685e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1429
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variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 9.25e1
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: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.872e1

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 2.265589e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 80

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3342
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 76
allele frequency: 1.138883893784091e-3
allele num: 66732
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
SIO_000300: 1.499e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

DP
type: SiteQuality
SIO_000300: 2.266289e6

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.896e-1

QD
type: SiteQuality
SIO_000300: 1.608e1

FS
type: SiteQuality
SIO_000300: 9.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.032e0

DP
type: SiteQuality
SIO_000300: 2.259536e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501665616278023e-5
allele num: 66642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South 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: 10388
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: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.084e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.029201502483945e-4
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.243627e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

Other
type: Population
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allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503152206544582e-5
allele num: 66620
num of homozygotes: 0

African
type: Population
allele count: 0
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Latino
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

Other
type: Population
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allele num: 908
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: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
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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bin: 9.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66620
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African
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allele frequency: 9.63020030816641e-5
allele num: 10384
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South Asian
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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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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variant carriers: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 5.73e-1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 2.188057e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-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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bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.120418e6

MQ
type: SiteQuality
SIO_000300: 6.027e1

QD
type: SiteQuality
SIO_000300: 1.127e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.171e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.08695652173913e-4
allele num: 11500
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.113e0

QD
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SIO_000300: 1.411e1

MQRankSum
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SIO_000300: -1.31e-1

VQSLOD
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MQ
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SIO_000300: 5.958e1

InbreedingCoeff
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SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

DP
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SIO_000300: 2.113732e6

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.392227051904884e-5
allele num: 15644
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.026e1

DP
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SIO_000300: 2.066331e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 11

East Asian
type: Population
allele count: 12
allele frequency: 1.497379585724981e-3
allele num: 8014
num of homozygotes: 0

Latino
type: Population
allele count: 38
allele frequency: 3.680030989734651e-3
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 91
allele frequency: 1.462082262210797e-3
allele num: 62240
num of homozygotes: 0

South Asian
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allele count: 39
allele frequency: 2.492968550242905e-3
allele num: 15644
num of homozygotes: 0

African
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allele count: 23
allele frequency: 2.356074574882196e-3
allele num: 9762
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.496503496503497e-3
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.218905472636816e-4
allele num: 6432
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

QD
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

DP
type: SiteQuality
SIO_000300: 2.066331e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

MQ
type: SiteQuality
SIO_000300: 6.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62240
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.048760499897562e-4
allele num: 9762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

MQ
type: SiteQuality
SIO_000300: 6.026e1

DP
type: SiteQuality
SIO_000300: 2.066331e6

GenotypeDepth
all individuals: 222
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9084
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.420133538777607e-5
allele num: 15576
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59700
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.0e-4

QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -9.9e-1

FS
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SIO_000300: 1.67e0

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -8.29e-1

DP
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SIO_000300: 1.785903e6

ReadPosRankSum
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SIO_000300: 1.31e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8378
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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South Asian
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allele frequency: 6.465795939480151e-5
allele num: 15466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 3
allele frequency: 1.94149624644059e-4
allele num: 15452
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.701895912046019e-5
allele num: 58758
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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FS
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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SIO_000300: 5.932e1

BaseQRankSum
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SIO_000300: 3.07e-1

VQSLOD
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SIO_000300: 1.33e0

ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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Latino
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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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European (Finnish)
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.721170395869191e-5
allele num: 58100
num of homozygotes: 0

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

South Asian
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allele frequency: 1.954652071931196e-4
allele num: 15348
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

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

DP
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SIO_000300: 1.762449e6

ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 5.958e1

ReadPosRankSum
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SIO_000300: 2.06e-1

FS
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SIO_000300: 1.224e0

MQRankSum
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SIO_000300: 5.54e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.752234098475556e-5
allele num: 57070
num of homozygotes: 0

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

European (Non-Finnish)
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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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Other
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QD
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VQSLOD
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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Other
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South Asian
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European (Non-Finnish)
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allele count: 3
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allele num: 56342
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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African
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Other
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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DP
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QD
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VQSLOD
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Other
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BaseQRankSum
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QD
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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South Asian
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VQSLOD
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FS
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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Latino
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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African
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European (Finnish)
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MQRankSum
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BaseQRankSum
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MQ
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QD
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
all individuals: 14164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5132
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.852469341632396e-5
allele num: 53982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14582
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.591291e6

QD
type: SiteQuality
SIO_000300: 1.241e1

FS
type: SiteQuality
SIO_000300: 6.925e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.29e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

GenotypeDepth
all individuals: 798
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3681
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1159
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14262
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1131
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3515
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 607
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1730
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3493
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.296680497925311e-4
allele num: 7712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.987e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1