18-72775939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775939
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775939
    reference: chr 18
allele count: 8
allele frequency: 7.678280065265381e-5
allele num: 104190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2702G>A
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6262G>A
  hgvsp: ENSP00000299687.4:p.Val2088Met
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val2088Met
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 58644
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

18-72775948-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775948
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775948
    reference: chr 18
allele count: 1
allele frequency: 1.050574664341395e-5
allele num: 95186
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6271A>G
  hgvsp: ENSP00000299687.4:p.Thr2091Ala
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2711A>G
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  bin: 9.75e1
  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: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr2091Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.515151515151515e-4
  allele num: 6600
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

18-72775949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775949
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775949
    reference: chr 18
allele count: 3
allele frequency: 3.317776647276105e-5
allele num: 90422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2712C>T
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6272C>T
  hgvsp: ENSP00000299687.4:p.Thr2091Met
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2660
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  variant carriers: 0
hgvs: p.Thr2091Met
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 638
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

18-72775950-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775950
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775950
    reference: chr 18
allele count: 3
allele frequency: 3.308118121871072e-5
allele num: 90686
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6273G>A
  hgvsp: ENST00000299687.5:c.6273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2713G>A
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  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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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr2091Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.57002271006813e-5
  allele num: 13210
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

18-72775952-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775952
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775952
    reference: chr 18
allele count: 2
allele frequency: 2.21185109818407e-5
allele num: 90422
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6275C>G
  hgvsp: ENSP00000299687.4:p.Ala2092Gly
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2715C>G
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala2092Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8070
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

18-72775952-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775952
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775952
    reference: chr 18
allele count: 2
allele frequency: 2.21185109818407e-5
allele num: 90422
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6275C>T
  hgvsp: ENSP00000299687.4:p.Ala2092Val
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2715C>T
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15125
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 427
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala2092Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6914
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

18-72775953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775953
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775953
    reference: chr 18
allele count: 2
allele frequency: 2.214054819997343e-5
allele num: 90332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2716C>T
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6276C>T
  hgvsp: ENST00000299687.5:c.6276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15129
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 161
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 746
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  variant carriers: 0
hgvs: p.Ala2092Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.447596988998263e-4
  allele num: 6908
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

18-72775954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775954
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775954
    reference: chr 18
allele count: 52
allele frequency: 5.780346820809249e-4
allele num: 89960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2717G>A
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6277G>A
  hgvsp: ENSP00000299687.4:p.Ala2093Thr
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8799
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1085
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13891
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3447
  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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 815
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genotype quality: GenotypeQuality
  all individuals: 19472
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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: 1020
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genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.75e1
  variant carriers: 53
hgvs: p.Ala2093Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 7.618467164406521e-5
  allele num: 13126
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

18-72775955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775955
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775955
    reference: chr 18
allele count: 1
allele frequency: 1.120297551029554e-5
allele num: 89262
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6278C>T
  hgvsp: ENSP00000299687.4:p.Ala2093Val
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2718C>T
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15429
  bin: 1.25e1
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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: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2093Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 50794
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

18-72775956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775956
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775956
    reference: chr 18
allele count: 112
allele frequency: 1.263708985873539e-3
allele num: 88628
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6279G>A
  hgvsp: ENST00000299687.5:c.6279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2719G>A
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15533
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 1.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18641
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Ala2093Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.270971021860702e-4
  allele num: 7868
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

18-72775956-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775956
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775956
    reference: chr 18
allele count: 3
allele frequency: 3.384934783589836e-5
allele num: 88628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2719G>C
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6279G>C
  hgvsp: ENST00000299687.5:c.6279G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14560
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala2093Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12986
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

17-80871234-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80871234
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80871233
    reference: chr 17
allele count: 1
allele frequency: 3.846153846153846e-2
allele num: 26
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.696+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2038+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.415+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.352+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.352+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.214+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.216+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.352+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458365
  ensembl transcript: ENST00000571316
  gene symbol: TBCD
  hgvsc: ENST00000571316.1:c.*1delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2038+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.352+1570delG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.496+1570delG
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  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: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: AG
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-80871263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80871263
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80871263
    reference: chr 17
allele count: 1
allele frequency: 2.777777777777778e-2
allele num: 36
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2038+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.496+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2038+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.216+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.415+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.696+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.352+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.352+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458365
  ensembl transcript: ENST00000571316
  gene symbol: TBCD
  hgvsc: ENST00000571316.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.214+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.352+1598C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.352+1598C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  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: 14
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 8
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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-80871267-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80871267
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80871267
    reference: chr 17
allele count: 1
allele frequency: 3.125e-2
allele num: 32
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.216+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2038+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.352+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.352+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.352+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.415+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2038+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.696+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458365
  ensembl transcript: ENST00000571316
  gene symbol: TBCD
  hgvsc: ENST00000571316.1:c.*33A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.352+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.496+1602A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.214+1602A>T
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
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: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  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: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

17-80878382-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878382
    reference: chr 17
allele count: 18
allele frequency: 9.780482503803521e-4
allele num: 18404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.47C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-50C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-50C>G
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21917
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-80878382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878382
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878382
    reference: chr 17
allele count: 3
allele frequency: 1.630080417300587e-4
allele num: 18404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-50C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-50C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21917
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

17-80878383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878383
    reference: chr 17
allele count: 3
allele frequency: 1.552473607948665e-4
allele num: 19324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.48G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-49G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-49G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21874
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

17-80878389-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878389
    reference: chr 17
allele count: 19650
allele frequency: 9.973606740432444e-1
allele num: 19702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.54A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-43A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-43A>G
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.75e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 2.5e0
  variant carriers: 10126
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.25e1
  variant carriers: 561
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 8.75e1
  variant carriers: 462
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.25e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 364
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 451
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.25e1
  variant carriers: 315
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 322
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 323
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 7.5e0
  variant carriers: 3899
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 9.75e1
  variant carriers: 3772
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 533
genotype quality: GenotypeQuality
num of homozygotes: 9802
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

17-80878390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878390
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878390
    reference: chr 17
allele count: 2
allele frequency: 1.017397497202157e-4
allele num: 19658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.55G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-42G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-42G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-72775959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775959
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775959
    reference: chr 18
allele count: 32
allele frequency: 3.691910101989017e-4
allele num: 86676
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6282C>T
  hgvsp: ENST00000299687.5:c.6282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2722C>T
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16072
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15396
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala2094Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 604
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

18-72775960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775960
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775960
    reference: chr 18
allele count: 3
allele frequency: 3.488453219842322e-5
allele num: 85998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2723G>A
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6283G>A
  hgvsp: ENSP00000299687.4:p.Gly2095Ser
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24968
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly2095Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.516070345664039e-4
  allele num: 6596
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

17-80878404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878404
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878404
    reference: chr 17
allele count: 1
allele frequency: 5.04133897963299e-5
allele num: 19836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.69C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-28C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-28C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

17-80878412-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878413
    reference: chr 17
allele count: 5379
allele frequency: 3.095649171270718e-1
allele num: 17376
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.92dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-5dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-5dupT
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 478
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 181
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 658
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.5e0
  variant carriers: 671
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 475
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 481
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 534
genotype quality: GenotypeQuality
num of homozygotes: 8
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-80878412-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878414
    reference: chr 17
allele count: 296
allele frequency: 1.703499079189687e-2
allele num: 17376
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-6_215-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.91_92dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-6_353-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-6_2039-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-6_416-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-6_353-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-6_697-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-6_353-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-6_2039-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-6_353-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-6_217-5dupTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-6_497-5dupTT
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.5e0
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

17-80878412-C-CTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878415
    reference: chr 17
allele count: 10
allele frequency: 5.755064456721916e-4
allele num: 17376
alternate allele: CTTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.90_92dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-7_497-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-7_353-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-7_697-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-7_353-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-7_353-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-7_2039-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-7_353-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-7_416-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-7_215-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-7_217-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-7_2039-5dupTTT
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-80878412-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878411
    reference: chr 17
allele count: 3150
allele frequency: 1.812845303867403e-1
allele num: 17376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.92delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-5delT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-5delT
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 518
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.5e0
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 274
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 226
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: CT
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

17-80878412-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878410
    reference: chr 17
allele count: 96
allele frequency: 5.524861878453038e-3
allele num: 17376
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 1.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 10140
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 12101
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5817
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 9.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 9
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 72
  allele frequency: 9.838753757857338e-3
  allele num: 7318
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 288
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 5
  allele frequency: 1.288659793814433e-2
  allele num: 388
  num of homozygotes: 0
population: African
  type: Population
  allele count: 5
  allele frequency: 2.808988764044944e-3
  allele num: 1780
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
reference allele: CTT
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-80878412-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878409
    reference: chr 17
allele count: 9
allele frequency: 5.179558011049724e-4
allele num: 17376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-7_497-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-7_353-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-7_2039-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-7_353-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.90_92delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-7_217-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-7_353-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-7_416-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-7_215-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-7_353-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-7_2039-5delTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-7_697-5delTTT
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: CTTT
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-80878415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878415
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878415
    reference: chr 17
allele count: 1
allele frequency: 6.220452848967405e-5
allele num: 16076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.80T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-17T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-17T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19138
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-80878422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878422
    reference: chr 17
allele count: 1
allele frequency: 4.721435316336166e-5
allele num: 21180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.87T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-10T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-10T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-80878427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878427
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878427
    reference: chr 17
allele count: 3
allele frequency: 1.416163141993958e-4
allele num: 21184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.92T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-5T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-5T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2039-5T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-80878428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878428
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878428
    reference: chr 17
allele count: 5
allele frequency: 2.670654844567888e-4
allele num: 18722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.93C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-4C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27128
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.2039-4C>T
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-80878429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878429
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878429
    reference: chr 17
allele count: 46
allele frequency: 2.203698380760755e-3
allele num: 20874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2039-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.416-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2039-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.497-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.353-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.697-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.353-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.215-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.217-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.353-3C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.94C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.353-3C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28467
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.2039-3C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

17-80878464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878464
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878464
    reference: chr 17
allele count: 1
allele frequency: 4.502881844380403e-5
allele num: 22208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.385A>G
  hgvsp: ENSP00000460949.1:p.Lys129Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.448A>G
  hgvsp: ENSP00000461680.1:p.Lys150Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.385A>G
  hgvsp: ENSP00000458599.1:p.Lys129Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460450
  ensembl transcript: ENST00000576996
  gene symbol: TBCD
  hgvsc: ENST00000576996.1:c.385A>G
  hgvsp: ENSP00000460450.1:p.Lys129Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.385A>G
  hgvsp: ENSP00000458535.2:p.Lys129Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.129A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2071A>G
  hgvsp: ENSP00000440671.2:p.Lys691Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.729A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2071A>G
  hgvsp: ENSP00000347719.4:p.Lys691Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.529A>G
  hgvsp: ENSP00000458556.1:p.Lys177Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.249A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.247A>G
  hgvsp: ENSP00000459063.1:p.Lys83Glu
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys691Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-80878487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878487
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878487
    reference: chr 17
allele count: 19
allele frequency: 8.500357909806728e-4
allele num: 22352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.471C>T
  hgvsp: ENST00000574975.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2094C>T
  hgvsp: ENST00000539345.2:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.270C>T
  hgvsp: ENST00000571712.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.408C>T
  hgvsp: ENST00000576760.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.408C>T
  hgvsp: ENST00000576160.2:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2094C>T
  hgvsp: ENST00000355528.4:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.152C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.408C>T
  hgvsp: ENST00000574422.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.272C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.752C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.552C>T
  hgvsp: ENST00000572953.1:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31006
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr698Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-80878488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878488
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878488
    reference: chr 17
allele count: 6
allele frequency: 2.679528403001072e-4
allele num: 22392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.271G>A
  hgvsp: ENSP00000459063.1:p.Val91Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.409G>A
  hgvsp: ENSP00000458535.2:p.Val137Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.409G>A
  hgvsp: ENSP00000458599.1:p.Val137Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.153G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.409G>A
  hgvsp: ENSP00000460949.1:p.Val137Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.753G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2095G>A
  hgvsp: ENSP00000347719.4:p.Val699Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2095G>A
  hgvsp: ENSP00000440671.2:p.Val699Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.472G>A
  hgvsp: ENSP00000461680.1:p.Val158Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.553G>A
  hgvsp: ENSP00000458556.1:p.Val185Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.273G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val699Ile
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

17-80878491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878491
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878491
    reference: chr 17
allele count: 1
allele frequency: 4.462691895751518e-5
allele num: 22408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.276A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.475A>G
  hgvsp: ENSP00000461680.1:p.Ile159Val
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.756A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2098A>G
  hgvsp: ENSP00000347719.4:p.Ile700Val
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2098A>G
  hgvsp: ENSP00000440671.2:p.Ile700Val
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.556A>G
  hgvsp: ENSP00000458556.1:p.Ile186Val
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.274A>G
  hgvsp: ENSP00000459063.1:p.Ile92Val
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.412A>G
  hgvsp: ENSP00000458535.2:p.Ile138Val
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.412A>G
  hgvsp: ENSP00000458599.1:p.Ile138Val
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.156A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.412A>G
  hgvsp: ENSP00000460949.1:p.Ile138Val
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9876
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile700Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-80878507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878507
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878507
    reference: chr 17
allele count: 1
allele frequency: 4.553734061930783e-5
allele num: 21960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2101+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.279+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.478+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.159+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2101+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.277+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.559+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.415+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.415+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.759+13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.415+13G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-80878544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80878544
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80878544
    reference: chr 17
allele count: 2
allele frequency: 9.425070688030161e-5
allele num: 21220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.559+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2101+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2101+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.279+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.478+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.759+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.415+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.159+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.415+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.277+50G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.415+50G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

17-80879329-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879328
    reference: chr 17
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.439delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-47delC
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-47delC
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: TC
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

17-80879330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879330
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879330
    reference: chr 17
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.439C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-47C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-80879331-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879331
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879331
    reference: chr 17
allele count: 2
allele frequency: 1.657550140891762e-5
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.440A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-46A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-46A>T
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-80879341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879341
    reference: chr 17
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.450T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-36T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-36T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

17-80879352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879352
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879352
    reference: chr 17
allele count: 7
allele frequency: 5.797773654916512e-5
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.461G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-25G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-25G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-80879355-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879355
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879355
    reference: chr 17
allele count: 8
allele frequency: 6.625588020936858e-5
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.464C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-22C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-22C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-80879356-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879356
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879356
    reference: chr 17
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.465G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-21G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-21G>C
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

17-80879364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879364
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879364
    reference: chr 17
allele count: 4
allele frequency: 3.312629399585921e-5
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.473G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-13G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-13G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-80879365-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879365
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879366
    reference: chr 17
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.480dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-6dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-6dupT
  variant of: http://identifiers.org/hgnc/11581
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-80879370-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879370
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879370
    reference: chr 17
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.280-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.416-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.479-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.560-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.760-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.479T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.160-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2102-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2102-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.416-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.278-7T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.416-7T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2102-7T>C
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

17-80879378-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879378
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879378
    reference: chr 17
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.487T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.417T>C
  hgvsp: ENST00000576160.2:c.417T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.417T>C
  hgvsp: ENST00000574422.1:c.417T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.561T>C
  hgvsp: ENST00000572953.1:c.561T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.480T>C
  hgvsp: ENST00000574975.1:c.480T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.281T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.761T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2103T>C
  hgvsp: ENST00000355528.4:c.2103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.161T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2103T>C
  hgvsp: ENST00000539345.2:c.2103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.279T>C
  hgvsp: ENST00000571712.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.417T>C
  hgvsp: ENST00000576760.1:c.417T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2103T>C
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

17-80879380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879380
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879380
    reference: chr 17
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458535
  ensembl transcript: ENST00000576160
  gene symbol: TBCD
  hgvsc: ENST00000576160.2:c.419G>A
  hgvsp: ENSP00000458535.2:p.Gly140Asp
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.489G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.281G>A
  hgvsp: ENSP00000459063.1:p.Gly94Asp
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.482G>A
  hgvsp: ENSP00000461680.1:p.Gly161Asp
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2105G>A
  hgvsp: ENSP00000440671.2:p.Gly702Asp
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.419G>A
  hgvsp: ENSP00000460949.1:p.Gly140Asp
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.419G>A
  hgvsp: ENSP00000458599.1:p.Gly140Asp
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2105G>A
  hgvsp: ENSP00000347719.4:p.Gly702Asp
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.283G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.763G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.563G>A
  hgvsp: ENSP00000458556.1:p.Gly188Asp
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.163G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly702Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

17-80879387-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879387
    reference: chr 17
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.570A>G
  hgvsp: ENST00000572953.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.489A>G
  hgvsp: ENST00000574975.1:c.489A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2112A>G
  hgvsp: ENST00000539345.2:c.2112A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.426A>G
  hgvsp: ENST00000576760.1:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2112A>G
  hgvsp: ENST00000355528.4:c.2112A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.770A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.170A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.290A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.496A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.426A>G
  hgvsp: ENST00000574422.1:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.288A>G
  hgvsp: ENST00000571712.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gln704Gln
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: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-80879412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879412
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879412
    reference: chr 17
allele count: 11
allele frequency: 9.108222240622672e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.195C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2137C>T
  hgvsp: ENSP00000440671.2:p.His713Tyr
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.451C>T
  hgvsp: ENSP00000460949.1:p.His151Tyr
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.521C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.595C>T
  hgvsp: ENSP00000458556.1:p.His199Tyr
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.313C>T
  hgvsp: ENSP00000459063.1:p.His105Tyr
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.795C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.514C>T
  hgvsp: ENSP00000461680.1:p.His172Tyr
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.315C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.451C>T
  hgvsp: ENSP00000458599.1:p.His151Tyr
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2137C>T
  hgvsp: ENSP00000347719.4:p.His713Tyr
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.His713Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-80879414-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879414
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.797T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.315T>C
  hgvsp: ENST00000571712.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.516T>C
  hgvsp: ENST00000574975.1:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2139T>C
  hgvsp: ENST00000355528.4:c.2139T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.453T>C
  hgvsp: ENST00000574422.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.597T>C
  hgvsp: ENST00000572953.1:c.597T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2139T>C
  hgvsp: ENST00000539345.2:c.2139T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.523T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.453T>C
  hgvsp: ENST00000576760.1:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.197T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.317T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His713His
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

17-80879417-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879417
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879417
    reference: chr 17
allele count: 31
allele frequency: 2.566862631448207e-4
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2142C>G
  hgvsp: ENST00000355528.4:c.2142C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.200C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.456C>G
  hgvsp: ENST00000576760.1:c.456C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.519C>G
  hgvsp: ENST00000574975.1:c.519C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.800C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.526C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2142C>G
  hgvsp: ENST00000539345.2:c.2142C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.600C>G
  hgvsp: ENST00000572953.1:c.600C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.318C>G
  hgvsp: ENST00000571712.1:c.318C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.320C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.456C>G
  hgvsp: ENST00000574422.1:c.456C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12131
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu714Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

17-80879429-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879429
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879429
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.468A>G
  hgvsp: ENST00000574422.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2154A>G
  hgvsp: ENST00000539345.2:c.2154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.212A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.538A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.812A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.468A>G
  hgvsp: ENST00000576760.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2154A>G
  hgvsp: ENST00000355528.4:c.2154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.531A>G
  hgvsp: ENST00000574975.1:c.531A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.330A>G
  hgvsp: ENST00000571712.1:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.332A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.612A>G
  hgvsp: ENST00000572953.1:c.612A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser718Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-80879439-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879439
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879439
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.478C>A
  hgvsp: ENSP00000460949.1:p.Arg160Ser
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.622C>A
  hgvsp: ENSP00000458556.1:p.Arg208Ser
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2164C>A
  hgvsp: ENSP00000440671.2:p.Arg722Ser
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.342C>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.548C>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.222C>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2164C>A
  hgvsp: ENSP00000347719.4:p.Arg722Ser
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.541C>A
  hgvsp: ENSP00000461680.1:p.Arg181Ser
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.340C>A
  hgvsp: ENSP00000459063.1:p.Arg114Ser
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.822C>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.478C>A
  hgvsp: ENSP00000458599.1:p.Arg160Ser
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg722Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

17-80879439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879439
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879439
    reference: chr 17
allele count: 8
allele frequency: 6.624161629543761e-5
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.822C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.340C>T
  hgvsp: ENSP00000459063.1:p.Arg114Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.548C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2164C>T
  hgvsp: ENSP00000440671.2:p.Arg722Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.222C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.478C>T
  hgvsp: ENSP00000460949.1:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2164C>T
  hgvsp: ENSP00000347719.4:p.Arg722Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.478C>T
  hgvsp: ENSP00000458599.1:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.622C>T
  hgvsp: ENSP00000458556.1:p.Arg208Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.342C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.541C>T
  hgvsp: ENSP00000461680.1:p.Arg181Cys
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg722Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-80879440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879440
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879440
    reference: chr 17
allele count: 5
allele frequency: 4.140101018464851e-5
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2165G>A
  hgvsp: ENSP00000347719.4:p.Arg722His
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.341G>A
  hgvsp: ENSP00000459063.1:p.Arg114His
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.479G>A
  hgvsp: ENSP00000460949.1:p.Arg160His
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.343G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.479G>A
  hgvsp: ENSP00000458599.1:p.Arg160His
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.623G>A
  hgvsp: ENSP00000458556.1:p.Arg208His
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.542G>A
  hgvsp: ENSP00000461680.1:p.Arg181His
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2165G>A
  hgvsp: ENSP00000440671.2:p.Arg722His
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.223G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.549G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.823G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg722His
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-80879443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879443
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879443
    reference: chr 17
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.826A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458556
  ensembl transcript: ENST00000572953
  gene symbol: TBCD
  hgvsc: ENST00000572953.1:c.626A>G
  hgvsp: ENSP00000458556.1:p.Gln209Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.346A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.552A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.226A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000459063
  ensembl transcript: ENST00000571712
  gene symbol: TBCD
  hgvsc: ENST00000571712.1:c.344A>G
  hgvsp: ENSP00000459063.1:p.Gln115Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.482A>G
  hgvsp: ENSP00000458599.1:p.Gln161Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2168A>G
  hgvsp: ENSP00000440671.2:p.Gln723Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.482A>G
  hgvsp: ENSP00000460949.1:p.Gln161Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.545A>G
  hgvsp: ENSP00000461680.1:p.Gln182Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2168A>G
  hgvsp: ENSP00000347719.4:p.Gln723Arg
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln723Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

17-80879457-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879457
    reference: chr 17
allele count: 2
allele frequency: 1.655985559805918e-5
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.492+4C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.836+4C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2178+4C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.356+4C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2178+4C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.555+4C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.492+4C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.562+4C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.236+4C>G
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2178+4C>G
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

17-80879457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879457
    reference: chr 17
allele count: 3
allele frequency: 2.483978339708878e-5
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.836+4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.492+4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2178+4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.555+4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.562+4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.492+4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.356+4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2178+4C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.236+4C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23092
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2178+4C>T
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

17-80879458-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879458
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879458
    reference: chr 17
allele count: 25
allele frequency: 2.069913394823561e-4
allele num: 120778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2178+5A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.492+5A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2178+5A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.356+5A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.562+5A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.492+5A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.836+5A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.236+5A>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.555+5A>G
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4863
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2178+5A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-80879459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80879459
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80879459
    reference: chr 17
allele count: 2
allele frequency: 1.656012983141788e-5
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574886
  gene symbol: TBCD
  hgvsc: ENST00000574886.1:n.562+6G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571618
  gene symbol: TBCD
  hgvsc: ENST00000571618.1:n.356+6G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000458599
  ensembl transcript: ENST00000574422
  gene symbol: TBCD
  hgvsc: ENST00000574422.1:c.492+6G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000460949
  ensembl transcript: ENST00000576760
  gene symbol: TBCD
  hgvsc: ENST00000576760.1:c.492+6G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000461680
  ensembl transcript: ENST00000574975
  gene symbol: TBCD
  hgvsc: ENST00000574975.1:c.555+6G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.2178+6G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.2178+6G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000571796
  gene symbol: TBCD
  hgvsc: ENST00000571796.1:n.836+6G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl transcript: ENST00000574818
  gene symbol: TBCD
  hgvsc: ENST00000574818.1:n.236+6G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2178+6G>A
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

18-72775965-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775965
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775965
    reference: chr 18
allele count: 3
allele frequency: 3.611238173194982e-5
allele num: 83074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2728G>C
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6288G>C
  hgvsp: ENSP00000299687.4:p.Gln2096His
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16917
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15178
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln2096His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5528
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

18-72775968-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775968
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775968
    reference: chr 18
allele count: 1
allele frequency: 1.243904866155836e-5
allele num: 80392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6291G>C
  hgvsp: ENSP00000299687.4:p.Leu2097Phe
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2731G>C
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu2097Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12206
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

18-72775970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775970
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775970
    reference: chr 18
allele count: 3
allele frequency: 3.729024238657552e-5
allele num: 80450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2733T>C
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6293T>C
  hgvsp: ENSP00000299687.4:p.Val2098Ala
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18117
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 706
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12909
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val2098Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5308
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

18-72775971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775971
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775971
    reference: chr 18
allele count: 1
allele frequency: 1.249312877917145e-5
allele num: 80044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2734C>T
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6294C>T
  hgvsp: ENST00000299687.5:c.6294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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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: 264
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  variant carriers: 0
hgvs: p.Val2098Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 570
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

18-72775975-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775975
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775975
    reference: chr 18
allele count: 1
allele frequency: 1.274339891935977e-5
allele num: 78472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2738G>T
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6298G>T
  hgvsp: ENSP00000299687.4:p.Asp2100Tyr
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 122
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genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp2100Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6618
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

18-72775977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72775977
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 72775977
    reference: chr 18
allele count: 1
allele frequency: 1.294129827104255e-5
allele num: 77272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215421
  ensembl protein: ENSP00000299687
  ensembl transcript: ENST00000299687
  gene symbol: ZNF407
  hgvsc: ENST00000299687.5:c.6300C>T
  hgvsp: ENST00000299687.5:c.6300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19904
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000215421
  ensembl transcript: ENST00000579200
  gene symbol: ZNF407
  hgvsc: ENST00000579200.1:n.2740C>T
  variant of: http://identifiers.org/hgnc/19904
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp2100Asp
num of homozygotes: 0
reference allele: C

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.533268778530917e-4
allele num: 14458
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4968
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1612e1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

DP
type: SiteQuality
SIO_000300: 1.210541e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.674e0

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.065975e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.491e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.888629646912428e-5
allele num: 51432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.526528549772613e-4
allele num: 3958
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.554e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.051e0

FS
type: SiteQuality
SIO_000300: 3.961e0

DP
type: SiteQuality
SIO_000300: 1.029316e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.939262304619323e-5
allele num: 51566
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.6e-4
allele num: 6250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 2.47e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

FS
type: SiteQuality
SIO_000300: 3.547e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.064e-1

DP
type: SiteQuality
SIO_000300: 1.020066e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.892681515765114e-4
allele num: 6914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

FS
type: SiteQuality
SIO_000300: 7.202e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 1.013534e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.887420307883688e-5
allele num: 51448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.202e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.013534e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.608751608751609e-4
allele num: 6216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51382
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.01102e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

Latino
type: Population
allele count: 1
allele frequency: 1.249063202598052e-4
allele num: 8006
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 7.103508263264714e-3
allele num: 6898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.954422858929758e-5
allele num: 51166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.197e0

DP
type: SiteQuality
SIO_000300: 1.00967e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.653451706719731e-5
allele num: 13066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 3.05e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.933e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

FS
type: SiteQuality
SIO_000300: 3.255e0

VQSLOD
type: SiteQuality
SIO_000300: -2.959e0

DP
type: SiteQuality
SIO_000300: 9.95258e5

MQRankSum
type: SiteQuality
SIO_000300: -1.149e0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.576604431759623e-4
allele num: 50454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

East Asian
type: Population
allele count: 93
allele frequency: 1.537698412698413e-2
allele num: 6048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.954209748892171e-4
allele num: 6770
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.310180194055136e-4
allele num: 12986
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.277e1

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

DP
type: SiteQuality
SIO_000300: 9.88794e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.946010227137591e-5
allele num: 50454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.88794e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeDepth
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 396
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 0
bin: 9.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.25e-1
allele num: 8
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.123e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.098e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.995e1

DP
type: SiteQuality
SIO_000300: 7.866e3

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

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

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 666
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 8.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2
bin: 6.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2728
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 140
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.25e-1
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.53e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.06e-1

QD
type: SiteQuality
SIO_000300: 2.459e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 9.088e3

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

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

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

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

East Asian
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South Asian
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allele frequency: 2.54000508001016e-4
allele num: 7874
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African
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Other
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Latino
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European (Non-Finnish)
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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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: 291

African
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allele frequency: 9.748520710059172e-1
allele num: 2028
num of homozygotes: 966

Latino
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East Asian
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European (Non-Finnish)
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South Asian
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num of homozygotes: 3938

European (Finnish)
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Other
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MQ
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FS
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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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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ClippingRankSum
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FS
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QD
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MQ
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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African
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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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Latino
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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DP
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BaseQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.854368932038835e-4
allele num: 2060
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.582e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

DP
type: SiteQuality
SIO_000300: 8.71107e5

VQSLOD
type: SiteQuality
SIO_000300: -1.51e0

MQ
type: SiteQuality
SIO_000300: 6.042e1

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 346

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 175

GenotypeQuality
all individuals: 887
bin: 1.25e1
variant carriers: 450

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 94

GenotypeQuality
all individuals: 177
bin: 7.75e1
variant carriers: 87

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 104

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 227

GenotypeQuality
all individuals: 12101
bin: 2.5e0
variant carriers: 255

GenotypeQuality
all individuals: 402
bin: 1.75e1
variant carriers: 214

GenotypeQuality
all individuals: 5817
bin: 9.75e1
variant carriers: 3869

GenotypeQuality
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bin: 9.25e1
variant carriers: 102

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 139

GenotypeQuality
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bin: 3.75e1
variant carriers: 147

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 145

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 104

GenotypeQuality
all individuals: 10140
bin: 7.5e0
variant carriers: 456

GenotypeQuality
all individuals: 480
bin: 2.25e1
variant carriers: 147

GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 154

GenotypeQuality
all individuals: 205
bin: 6.75e1
variant carriers: 117

GenotypeQuality
all individuals: 206
bin: 7.25e1
variant carriers: 105

East Asian
type: Population
allele count: 94
allele frequency: 2.422680412371134e-1
allele num: 388
num of homozygotes: 0

African
type: Population
allele count: 733
allele frequency: 4.117977528089888e-1
allele num: 1780
num of homozygotes: 6

South Asian
type: Population
allele count: 2299
allele frequency: 3.179806362378976e-1
allele num: 7230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 52
allele frequency: 2.653061224489796e-1
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2050
allele frequency: 2.801311833834381e-1
allele num: 7318
num of homozygotes: 2

Other
type: Population
allele count: 58
allele frequency: 3.295454545454545e-1
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 93
allele frequency: 3.229166666666667e-1
allele num: 288
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 7.13623e5

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.843e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 3.41e0

GenotypeDepth
all individuals: 763
bin: 7.25e1
variant carriers: 24

GenotypeQuality
all individuals: 5817
bin: 9.75e1
variant carriers: 124

GenotypeQuality
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variant carriers: 19

GenotypeQuality
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variant carriers: 17

GenotypeQuality
all individuals: 887
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variant carriers: 28

GenotypeQuality
all individuals: 276
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variant carriers: 16

GenotypeQuality
all individuals: 180
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variant carriers: 7

GenotypeQuality
all individuals: 10140
bin: 7.5e0
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GenotypeQuality
all individuals: 402
bin: 1.75e1
variant carriers: 17

GenotypeQuality
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GenotypeQuality
all individuals: 12101
bin: 2.5e0
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GenotypeQuality
all individuals: 175
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 44

GenotypeQuality
all individuals: 206
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 205
bin: 6.75e1
variant carriers: 15

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 274
bin: 3.75e1
variant carriers: 12

GenotypeQuality
all individuals: 177
bin: 7.75e1
variant carriers: 9

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 23

South Asian
type: Population
allele count: 127
allele frequency: 1.756569847856155e-2
allele num: 7230
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.472222222222222e-3
allele num: 288
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.681818181818182e-3
allele num: 176
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 7.731958762886598e-3
allele num: 388
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 2.808988764044944e-2
allele num: 1780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 113
allele frequency: 1.54413774255261e-2
allele num: 7318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.10204081632653e-3
allele num: 196
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.843e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 7.13623e5

QD
type: SiteQuality
SIO_000300: 3.41e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeDepth
all individuals: 581
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 402
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12101
bin: 2.5e0
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GenotypeQuality
all individuals: 276
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variant carriers: 2

GenotypeQuality
all individuals: 324
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variant carriers: 2

GenotypeQuality
all individuals: 239
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variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 261
bin: 4.75e1
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GenotypeQuality
all individuals: 10140
bin: 7.5e0
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GenotypeQuality
all individuals: 480
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 274
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GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 175
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GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 887
bin: 1.25e1
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GenotypeQuality
all individuals: 5817
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
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GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 1

South Asian
type: Population
allele count: 4
allele frequency: 5.532503457814661e-4
allele num: 7230
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.617977528089888e-4
allele num: 1780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 6.83246788740093e-4
allele num: 7318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.843e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

DP
type: SiteQuality
SIO_000300: 7.13623e5

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

QD
type: SiteQuality
SIO_000300: 3.41e0

GenotypeDepth
all individuals: 313
bin: 9.25e1
variant carriers: 146

GenotypeQuality
all individuals: 402
bin: 1.75e1
variant carriers: 89

GenotypeQuality
all individuals: 10140
bin: 7.5e0
variant carriers: 134

GenotypeQuality
all individuals: 12101
bin: 2.5e0
variant carriers: 93

GenotypeQuality
all individuals: 354
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variant carriers: 114

GenotypeQuality
all individuals: 887
bin: 1.25e1
variant carriers: 136

GenotypeQuality
all individuals: 208
bin: 6.25e1
variant carriers: 88

GenotypeQuality
all individuals: 324
bin: 5.25e1
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GenotypeQuality
all individuals: 274
bin: 3.75e1
variant carriers: 109

GenotypeQuality
all individuals: 178
bin: 9.25e1
variant carriers: 66

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 102

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 71

GenotypeQuality
all individuals: 480
bin: 2.25e1
variant carriers: 93

GenotypeQuality
all individuals: 205
bin: 6.75e1
variant carriers: 84

GenotypeQuality
all individuals: 239
bin: 4.25e1
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GenotypeQuality
all individuals: 276
bin: 2.75e1
variant carriers: 100

GenotypeQuality
all individuals: 177
bin: 7.75e1
variant carriers: 77

GenotypeQuality
all individuals: 206
bin: 7.25e1
variant carriers: 90

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 118

GenotypeQuality
all individuals: 5817
bin: 9.75e1
variant carriers: 1911

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 77

East Asian
type: Population
allele count: 97
allele frequency: 2.5e-1
allele num: 388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1515
allele frequency: 2.070237769882481e-1
allele num: 7318
num of homozygotes: 0

Latino
type: Population
allele count: 49
allele frequency: 1.701388888888889e-1
allele num: 288
num of homozygotes: 0

South Asian
type: Population
allele count: 1260
allele frequency: 1.742738589211618e-1
allele num: 7230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 37
allele frequency: 1.887755102040816e-1
allele num: 196
num of homozygotes: 0

Other
type: Population
allele count: 27
allele frequency: 1.534090909090909e-1
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 165
allele frequency: 9.269662921348315e-2
allele num: 1780
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.843e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

DP
type: SiteQuality
SIO_000300: 7.13623e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.681818181818182e-3
allele num: 176
num of homozygotes: 0

South Asian
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allele count: 13
allele frequency: 1.798063623789765e-3
allele num: 7230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.843e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 3.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 7.13623e5

GenotypeDepth
all individuals: 763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
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GenotypeQuality
all individuals: 274
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GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 12101
bin: 2.5e0
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 175
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GenotypeQuality
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GenotypeQuality
all individuals: 480
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 402
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GenotypeQuality
all individuals: 180
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GenotypeQuality
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GenotypeQuality
all individuals: 276
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GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.577319587628866e-3
allele num: 388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.617977528089888e-4
allele num: 1780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 9.565455042361301e-4
allele num: 7318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.843e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 7.13623e5

GenotypeDepth
all individuals: 203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 271
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GenotypeQuality
all individuals: 54
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GenotypeQuality
all individuals: 73
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 318
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GenotypeQuality
all individuals: 223
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GenotypeQuality
all individuals: 274
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.67379679144385e-3
allele num: 374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1778
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

FS
type: SiteQuality
SIO_000300: 8.795999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 6.74237e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.99e0

GenotypeDepth
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
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GenotypeQuality
all individuals: 967
bin: 1.75e1
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GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 273
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GenotypeQuality
all individuals: 426
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GenotypeQuality
all individuals: 1660
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GenotypeQuality
all individuals: 337
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GenotypeQuality
all individuals: 371
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GenotypeQuality
all individuals: 4988
bin: 2.5e0
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GenotypeQuality
all individuals: 1265
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.681647940074906e-4
allele num: 2136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.029e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

FS
type: SiteQuality
SIO_000300: 1.8766e1

DP
type: SiteQuality
SIO_000300: 8.18296e5

QD
type: SiteQuality
SIO_000300: 3.082e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.65e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.104728236853734e-4
allele num: 9052
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.523977788995457e-4
allele num: 7924
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2180
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

DP
type: SiteQuality
SIO_000300: 8.21693e5

BaseQRankSum
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SIO_000300: 1.45e0

QD
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SIO_000300: 6.43e0

FS
type: SiteQuality
SIO_000300: 2.3152e1

InbreedingCoeff
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SIO_000300: -6.2e-2

ReadPosRankSum
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SIO_000300: -7.23e-1

VQSLOD
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SIO_000300: -2.047e0

ClippingRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.789e1

GenotypeDepth
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variant carriers: 0

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
all individuals: 5904
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1774
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.715014773032501e-4
allele num: 7446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.693e-1

FS
type: SiteQuality
SIO_000300: 3.541e0

MQ
type: SiteQuality
SIO_000300: 5.744e1

DP
type: SiteQuality
SIO_000300: 8.0587e5

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
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SIO_000300: -1.376e0

QD
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.38e-2

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
all individuals: 190
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variant carriers: 4

GenotypeDepth
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6693
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variant carriers: 47

GenotypeQuality
all individuals: 385
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 45
allele frequency: 2.134724857685009e-2
allele num: 2108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.126887536623845e-4
allele num: 8874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

QD
type: SiteQuality
SIO_000300: 1.1e1

BaseQRankSum
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SIO_000300: -7.58e-1

FS
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SIO_000300: 2.031e0

VQSLOD
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SIO_000300: -6.418e-1

InbreedingCoeff
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SIO_000300: -6.270000000000001e-2

DP
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SIO_000300: 7.67932e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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
all individuals: 17
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GenotypeQuality
all individuals: 30334
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 994
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.366812227074236e-4
allele num: 2290
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.49e0

FS
type: SiteQuality
SIO_000300: 1.315e0

VQSLOD
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MQ
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SIO_000300: 5.966e1

ReadPosRankSum
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SIO_000300: 4.44e-1

MQRankSum
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BaseQRankSum
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SIO_000300: 3.2e-2

InbreedingCoeff
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SIO_000300: -5.97e-2

DP
type: SiteQuality
SIO_000300: 8.23335e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 19
allele frequency: 2.376188094047024e-3
allele num: 7996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 456
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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SIO_000300: -1.84e-1

DP
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SIO_000300: 8.27763e5

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

East Asian
type: Population
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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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Latino
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allele frequency: 0.0e0
allele num: 456
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African
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allele frequency: 0.0e0
allele num: 2344
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European (Finnish)
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allele count: 2
allele frequency: 2.252252252252252e-3
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 4.13393964448119e-4
allele num: 9676
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

DP
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InbreedingCoeff
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SIO_000300: -6.13e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.032844453625284e-4
allele num: 9682
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -6.15e-2

BaseQRankSum
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SIO_000300: 2.33e0

ClippingRankSum
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SIO_000300: 7.31e-1

MQRankSum
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SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 1.134e0

VQSLOD
type: SiteQuality
SIO_000300: -5.914e-1

QD
type: SiteQuality
SIO_000300: 1.357e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.851e1

DP
type: SiteQuality
SIO_000300: 8.20931e5

GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 4.351610095735422e-4
allele num: 2298
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.520999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.099e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.83e-2

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 7.95686e5

QD
type: SiteQuality
SIO_000300: 7.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
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SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

South Asian
type: Population
allele count: 1
allele frequency: 1.259445843828715e-4
allele num: 7940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.095050372317127e-4
allele num: 9132
num of homozygotes: 0

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

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

Other
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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
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.68099e5

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
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QD
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SIO_000300: 1.22e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.13e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

MQRankSum
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SIO_000300: -4.082e0

ReadPosRankSum
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SIO_000300: -5.29e-1

MQ
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SIO_000300: 5.571e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.734e-1

ClippingRankSum
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SIO_000300: 4.19e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.50197e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.873e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

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

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 7.36e-1

QD
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MQ
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SIO_000300: 5.604e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

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

South Asian
type: Population
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: 9790
num of homozygotes: 0

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

Other
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QD
type: SiteQuality
SIO_000300: 2.03e0

MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

African
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allele count: 0
allele frequency: 0.0e0
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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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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FS
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VQSLOD
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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: 7

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

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 7
allele frequency: 4.240368306275745e-4
allele num: 16508
num of homozygotes: 0

FS
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SIO_000300: 1.859e0

ReadPosRankSum
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DP
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SIO_000300: 2.512948e6

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 4.6e-3

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 3.79e-1

VQSLOD
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SIO_000300: 9.5e-1

QD
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SIO_000300: 1.432e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.049066330965441e-4
allele num: 66726
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

QD
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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SIO_000300: 2.02e-1

ClippingRankSum
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SIO_000300: -1.74e-1

VQSLOD
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SIO_000300: 1.7e0

DP
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SIO_000300: 2.5132e6

GenotypeDepth
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

FS
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 2.68e0

MQ
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SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

South Asian
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allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9798
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
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.222e0

DP
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SIO_000300: 2.513386e6

InbreedingCoeff
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MQ
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SIO_000300: 5.938e1

ReadPosRankSum
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SIO_000300: 3.3e-1

ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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SIO_000300: 6.22e-1

QD
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SIO_000300: 1.106e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 898
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

ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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QD
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MQ
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 3.3e-3

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

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

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

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

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

European (Finnish)
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num of homozygotes: 0

Latino
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MQRankSum
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QD
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ClippingRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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Other
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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QD
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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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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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 3.0e-3

MQRankSum
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QD
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.62e0

MQ
type: SiteQuality
SIO_000300: 5.737e1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.513441e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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MQ
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MQRankSum
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BaseQRankSum
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SIO_000300: 2.89e0

VQSLOD
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SIO_000300: 7.33e-1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

African
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allele count: 9
allele frequency: 9.179926560587516e-4
allele num: 9804
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
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SIO_000300: 5.15e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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BaseQRankSum
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SIO_000300: 3.23e0

VQSLOD
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MQRankSum
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SIO_000300: 8.999999999999999e-3

InbreedingCoeff
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ReadPosRankSum
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SIO_000300: -1.409e0

ClippingRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.513581e6

FS
type: SiteQuality
SIO_000300: 5.876e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 31

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

Latino
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allele count: 31
allele frequency: 2.677954388389772e-3
allele num: 11576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.515106e6

MQRankSum
type: SiteQuality
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QD
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

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

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

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

Other
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East Asian
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African
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allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

South Asian
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allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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 frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.491983577571999e-5
allele num: 66738
num of homozygotes: 0

VQSLOD
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ReadPosRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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SIO_000300: 5.0e-4

QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

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

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

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

Other
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allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

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

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

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

East Asian
type: Population
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allele frequency: 2.898214699744957e-3
allele num: 8626
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
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DP
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.195e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: 1.67e0

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

Other
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South Asian
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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
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African
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allele num: 9812
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European (Finnish)
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allele count: 0
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DP
type: SiteQuality
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VQSLOD
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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allele num: 590
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African
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allele frequency: 4.6875e-4
allele num: 6400
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South Asian
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Latino
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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FS
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QD
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ReadPosRankSum
type: SiteQuality
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Latino
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 2.172590597027896e-5
allele num: 46028
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FS
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MQ
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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South Asian
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allele frequency: 2.456197805796627e-4
allele num: 12214
num of homozygotes: 0

European (Non-Finnish)
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Other
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allele num: 574
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African
type: Population
allele count: 0
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European (Finnish)
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Latino
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VQSLOD
type: SiteQuality
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FS
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
type: SiteQuality
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Latino
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East Asian
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African
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allele frequency: 1.614987080103359e-4
allele num: 6192
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South Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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FS
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DP
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MQ
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MQRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

QD
type: SiteQuality
SIO_000300: 1.588e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12050
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.955416503715291e-4
allele num: 5114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6062
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.081e1

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e0

FS
type: SiteQuality
SIO_000300: 2.218e0

DP
type: SiteQuality
SIO_000300: 8.61328e5