17-80739448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739448
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739448
    reference: chr 17
allele count: 1
allele frequency: 8.42133629764371e-6
allele num: 118746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-520-17C>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.639-17C>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.639-17C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7012
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-80739450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739450
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739450
    reference: chr 17
allele count: 3
allele frequency: 2.523001362420736e-5
allele num: 118906
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.639-15G>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.639-15G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-520-15G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 250
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genotype quality: GenotypeQuality
  all individuals: 7823
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7023
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-80739455-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739455
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739455
    reference: chr 17
allele count: 1
allele frequency: 8.384197464618687e-6
allele num: 119272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-520-10C>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.639-10C>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.639-10C>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7949
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 222
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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: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

17-80739455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739455
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739455
    reference: chr 17
allele count: 9
allele frequency: 7.545777718156819e-5
allele num: 119272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.639-10C>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.639-10C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-520-10C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14934
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26338
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8929
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7949
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

17-80739475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739475
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739475
    reference: chr 17
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-510C>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.649C>T
  hgvsp: ENSP00000440671.2:p.Arg217Cys
  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.649C>T
  hgvsp: ENSP00000347719.4:p.Arg217Cys
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5091
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg217Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

17-80739479-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739479
    reference: chr 17
allele count: 5
allele frequency: 4.1556541830815e-5
allele num: 120318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-506C>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.653C>G
  hgvsp: ENSP00000347719.4:p.Pro218Arg
  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.653C>G
  hgvsp: ENSP00000440671.2:p.Pro218Arg
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15688
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro218Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

17-80739483-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739483
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739483
    reference: chr 17
allele count: 2
allele frequency: 1.661405549094534e-5
allele num: 120380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.657T>C
  hgvsp: ENST00000539345.2:c.657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-502T>C
  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.657T>C
  hgvsp: ENST00000355528.4:c.657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7149
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp219Asp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

17-80739491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739491
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739491
    reference: chr 17
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.665A>G
  hgvsp: ENSP00000347719.4:p.Gln222Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-494A>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.665A>G
  hgvsp: ENSP00000440671.2:p.Gln222Arg
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1959
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 26413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln222Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

17-80739512-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739512
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739512
    reference: chr 17
allele count: 3
allele frequency: 2.488882989314396e-5
allele num: 120536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.686T>G
  hgvsp: ENSP00000440671.2:p.Leu229Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-473T>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.686T>G
  hgvsp: ENSP00000347719.4:p.Leu229Arg
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26360
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7187
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Leu229Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

17-80739514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739514
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739514
    reference: chr 17
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.688G>A
  hgvsp: ENSP00000440671.2:p.Asp230Asn
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-471G>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.688G>A
  hgvsp: ENSP00000347719.4:p.Asp230Asn
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8322
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 188
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genotype quality: GenotypeQuality
  all individuals: 2504
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 152
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genotype quality: GenotypeQuality
  all individuals: 4334
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp230Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-80739519-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739519
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739519
    reference: chr 17
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.693G>C
  hgvsp: ENSP00000347719.4:p.Trp231Cys
  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.693G>C
  hgvsp: ENSP00000440671.2:p.Trp231Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-466G>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7199
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp231Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

17-80739519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739519
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739519
    reference: chr 17
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-466G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.693G>A
  hgvsp: ENSP00000440671.2:p.Trp231Ter
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.693G>A
  hgvsp: ENSP00000347719.4:p.Trp231Ter
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8319
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4347
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7199
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Trp231Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

17-80739526-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739526
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739526
    reference: chr 17
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.700T>G
  hgvsp: ENSP00000347719.4:p.Cys234Gly
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-459T>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.700T>G
  hgvsp: ENSP00000440671.2:p.Cys234Gly
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8325
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys234Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-80739538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739538
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739538
    reference: chr 17
allele count: 8
allele frequency: 6.636250518457072e-5
allele num: 120550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.712C>T
  hgvsp: ENSP00000347719.4:p.Arg238Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-447C>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.712C>T
  hgvsp: ENSP00000440671.2:p.Arg238Cys
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7212
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Arg238Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

17-80739539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739539
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739539
    reference: chr 17
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
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.713G>A
  hgvsp: ENSP00000347719.4:p.Arg238His
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-446G>A
  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.713G>A
  hgvsp: ENSP00000440671.2:p.Arg238His
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 26343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  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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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7216
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8320
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genotype quality: GenotypeQuality
  all individuals: 1969
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg238His
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-80739542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739542
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739542
    reference: chr 17
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.716C>T
  hgvsp: ENSP00000347719.4:p.Ser239Phe
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-443C>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.716C>T
  hgvsp: ENSP00000440671.2:p.Ser239Phe
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
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genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 8333
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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: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1969
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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
  all individuals: 7218
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genotype quality: GenotypeQuality
  all individuals: 5220
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser239Phe
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-80739543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739543
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739543
    reference: chr 17
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.717C>T
  hgvsp: ENST00000539345.2:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-442C>T
  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.717C>T
  hgvsp: ENST00000355528.4:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  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
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8334
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser239Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

17-80739546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739546
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739546
    reference: chr 17
allele count: 2
allele frequency: 1.658897496723677e-5
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.720C>T
  hgvsp: ENST00000539345.2:c.720C>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.720C>T
  hgvsp: ENST00000355528.4:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-439C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7219
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5219
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser240Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

17-80739555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739555
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739555
    reference: chr 17
allele count: 3
allele frequency: 2.488800398208064e-5
allele num: 120540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.729C>T
  hgvsp: ENST00000539345.2:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-430C>T
  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.729C>T
  hgvsp: ENST00000355528.4:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15943
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 8329
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr243Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

17-80739557-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739557
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739557
    reference: chr 17
allele count: 2
allele frequency: 1.659282857948795e-5
allele num: 120534
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.731T>C
  hgvsp: ENSP00000347719.4:p.Met244Thr
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-428T>C
  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.731T>C
  hgvsp: ENSP00000440671.2:p.Met244Thr
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met244Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

17-80739565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739565
    reference: chr 17
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
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.739G>A
  hgvsp: ENSP00000347719.4:p.Val247Ile
  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.739G>A
  hgvsp: ENSP00000440671.2:p.Val247Ile
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-420G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7225
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val247Ile
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-80739565-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739565
    reference: chr 17
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.739G>T
  hgvsp: ENSP00000347719.4:p.Val247Phe
  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.739G>T
  hgvsp: ENSP00000440671.2:p.Val247Phe
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-420G>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8311
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val247Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-80739572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739572
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739572
    reference: chr 17
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-413C>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.746C>T
  hgvsp: ENSP00000440671.2:p.Thr249Ile
  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.746C>T
  hgvsp: ENSP00000347719.4:p.Thr249Ile
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5209
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 299
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr249Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-80739584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739584
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739584
    reference: chr 17
allele count: 5
allele frequency: 4.156690609204576e-5
allele num: 120288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.758C>T
  hgvsp: ENSP00000440671.2:p.Thr253Met
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-401C>T
  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.758C>T
  hgvsp: ENSP00000347719.4:p.Thr253Met
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
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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: 1967
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 116
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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: 82
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genotype quality: GenotypeQuality
  all individuals: 5207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8265
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr253Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-80739585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739585
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739585
    reference: chr 17
allele count: 3
allele frequency: 2.494221719682735e-5
allele num: 120278
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.759G>A
  hgvsp: ENST00000355528.4:c.759G>A(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.759G>A
  hgvsp: ENST00000539345.2:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-400G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  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: 1
genotype depth: GenotypeDepth
  all individuals: 232
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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: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr253Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-80739597-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739597
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739597
    reference: chr 17
allele count: 1
allele frequency: 8.324176738920521e-6
allele num: 120132
alternate allele: T
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.771G>T
  hgvsp: ENST00000355528.4:c.771G>T(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: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.771G>T
  hgvsp: ENST00000539345.2:c.771G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388G>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
hgvs: c.771G>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-80739603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739603
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739603
    reference: chr 17
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: C
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.771+6T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+6T>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.771+6T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
hgvs: c.771+6T>C
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-80739606-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739606
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739606
    reference: chr 17
allele count: 1
allele frequency: 8.335000333400014e-6
allele num: 119976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+9T>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.771+9T>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.771+9T>G
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-80739607-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739607
    reference: chr 17
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.771+10G>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.771+10G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+10G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-80739607-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739607
    reference: chr 17
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.771+10G>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.771+10G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+10G>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-80739607-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739607
    reference: chr 17
allele count: 1
allele frequency: 8.338475393159114e-6
allele num: 119926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+10G>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.771+10G>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.771+10G>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24864
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-80739608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739608
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739608
    reference: chr 17
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
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.771+11C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+11C>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.771+11C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15641
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1966
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7230
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-80739610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739610
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739610
    reference: chr 17
allele count: 345
allele frequency: 2.877733847154797e-3
allele num: 119886
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.771+13C>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.771+13C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+13C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 24688
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9504
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24836
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
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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: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 342
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS

17-80739611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739611
    reference: chr 17
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+14G>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.771+14G>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.771+14G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7419
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-80739611-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739611
    reference: chr 17
allele count: 9
allele frequency: 7.508384362538168e-5
allele num: 119866
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.771+14G>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.771+14G>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+14G>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
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genotype quality: GenotypeQuality
  all individuals: 2507
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genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7419
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-80739619-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739619
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739619
    reference: chr 17
allele count: 1
allele frequency: 8.352683717278361e-6
allele num: 119722
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.771+22T>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.771+22T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+22T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15311
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7413
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 90
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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: 5118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

17-80739626-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739626
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739626
    reference: chr 17
allele count: 1
allele frequency: 8.357430591538938e-6
allele num: 119654
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.771+29A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+29A>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.771+29A>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23499
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 7412
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23068
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-80739628-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739628
    reference: chr 17
allele count: 383
allele frequency: 3.20362687366167e-3
allele num: 119552
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.771+31C>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+31C>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.771+31C>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 23265
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
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  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22848
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7753
  bin: 9.75e1
  variant carriers: 379
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 3
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

17-80739628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739628
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739628
    reference: chr 17
allele count: 11
allele frequency: 9.201017130620985e-5
allele num: 119552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+31C>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.771+31C>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.771+31C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
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: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-80739629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739629
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739629
    reference: chr 17
allele count: 6
allele frequency: 5.020500376537528e-5
allele num: 119510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+32G>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.771+32G>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.771+32G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22373
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7631
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

17-80739640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739640
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739640
    reference: chr 17
allele count: 1
allele frequency: 8.381667616588997e-6
allele num: 119308
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.771+43G>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.771+43G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+43G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7632
  bin: 9.75e1
  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
  all individuals: 1945
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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: 95
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genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-80739642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80739642
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80739642
    reference: chr 17
allele count: 2
allele frequency: 1.679543164259321e-5
allele num: 119080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-388+45G>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.771+45G>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.771+45G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4041
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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: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-80755585-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755585
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755582
    reference: chr 17
allele count: 1
allele frequency: 1.878287002253945e-5
allele num: 53240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.772-45_772-43delTCT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-45_-387-43delTCT
  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.772-45_772-43delTCT
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23116
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6351
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7912
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: ACTT
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-80755586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755586
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755586
    reference: chr 17
allele count: 1
allele frequency: 1.881963264077085e-5
allele num: 53136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.772-47C>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.772-47C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-47C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5824
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-80755591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755591
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755591
    reference: chr 17
allele count: 1
allele frequency: 1.874765654293213e-5
allele num: 53340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-42A>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.772-42A>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.772-42A>G
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6339
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

17-80755595-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755595
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755595
    reference: chr 17
allele count: 7
allele frequency: 1.303295475702849e-4
allele num: 53710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.772-38G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-38G>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.772-38G>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23434
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6346
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3543
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/17-80755609-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755609
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755609
    reference: chr 17
allele count: 1
allele frequency: 1.63521601203519e-5
allele num: 61154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.772-24A>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-24A>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.772-24A>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7051
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-80755614-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755614
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755615
    reference: chr 17
allele count: 1
allele frequency: 1.63446765388513e-5
allele num: 61182
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.772-19_772-18insG
  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.772-19_772-18insG
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-19_-387-18insG
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16823
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6036
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19435
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

17-80755615-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755615
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755616
    reference: chr 17
allele count: 15477
allele frequency: 3.223569107723069e-1
allele num: 48012
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.772-3dupT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-3dupT
  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.772-3dupT
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 648
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 489
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 7.5e0
  variant carriers: 6138
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 1.25e1
  variant carriers: 7047
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 1.75e1
  variant carriers: 3178
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 685
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 688
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 799
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.25e1
  variant carriers: 1180
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 465
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 597
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 845
genotype quality: GenotypeQuality
  all individuals: 21386
  bin: 2.5e0
  variant carriers: 926
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 1196
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 1059
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 460
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 1056
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 966
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 842
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 981
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 624
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 650
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 1037
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 1006
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 1220
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 635
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 9.75e1
  variant carriers: 6438
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 1205
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 955
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 6.75e1
  variant carriers: 930
num of homozygotes: 230
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-80755615-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755615
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755614
    reference: chr 17
allele count: 8442
allele frequency: 1.758310422394401e-1
allele num: 48012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-3delT
  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.772-3delT
  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.772-3delT
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 408
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 7.5e0
  variant carriers: 1249
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 1.75e1
  variant carriers: 1892
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 1.25e1
  variant carriers: 2781
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 451
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 314
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.25e1
  variant carriers: 850
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 263
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 453
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 509
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 6.75e1
  variant carriers: 391
genotype quality: GenotypeQuality
  all individuals: 21386
  bin: 2.5e0
  variant carriers: 291
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 291
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 291
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 431
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 401
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 348
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 321
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 287
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 619
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 356
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 9.75e1
  variant carriers: 3059
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 288
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 564
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 439
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 411
num of homozygotes: 128
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: CT
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-80755615-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755615
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755613
    reference: chr 17
allele count: 321
allele frequency: 6.685828542864284e-3
allele num: 48012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-4_-387-3delTT
  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.772-4_772-3delTT
  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.772-4_772-3delTT
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 1.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 1.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 7.5e0
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 6.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 21386
  bin: 2.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 27
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: CTT
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-80755615-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755615
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755617
    reference: chr 17
allele count: 566
allele frequency: 1.178871948679497e-2
allele num: 48012
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-4_-387-3dupTT
  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.772-4_772-3dupTT
  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.772-4_772-3dupTT
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 1.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 1.25e1
  variant carriers: 390
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 7.5e0
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21386
  bin: 2.5e0
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 6.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 9.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 59
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-80755615-C-CTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755615
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755618
    reference: chr 17
allele count: 39
allele frequency: 8.122969257685578e-4
allele num: 48012
alternate allele: CTTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.772-5_772-3dupTTT
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-5_-387-3dupTTT
  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.772-5_772-3dupTTT
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 21386
  bin: 2.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-80755615-CTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755615
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755612
    reference: chr 17
allele count: 20
allele frequency: 4.165625260351579e-4
allele num: 48012
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9312
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21386
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 2.233139794551139e-4
  allele num: 8956
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.793626707132018e-4
  allele num: 2636
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 3
  allele frequency: 9.351620947630922e-4
  allele num: 3208
  num of homozygotes: 0
population: African
  type: Population
  allele count: 6
  allele frequency: 1.2453300124533e-3
  allele num: 4818
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: CTTT
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-80755630-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755630
    reference: chr 17
allele count: 1
allele frequency: 9.693867659318715e-6
allele num: 103158
alternate allele: A
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.772-3T>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.772-3T>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-3T>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14512
  bin: 1.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 14189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 6.75e1
  variant carriers: 0
hgvs: c.772-3T>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-80755631-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755631
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755631
    reference: chr 17
allele count: 25
allele frequency: 3.094978706546499e-4
allele num: 80776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.772-2A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-387-2A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.772-2A>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 6
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: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11192
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 5.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 8503
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genotype quality: GenotypeQuality
  all individuals: 1868
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genotype quality: GenotypeQuality
  all individuals: 14174
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 819
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genotype quality: GenotypeQuality
  all individuals: 661
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genotype quality: GenotypeQuality
  all individuals: 1230
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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: 431
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9409
  bin: 6.25e1
  variant carriers: 5
hgvs: c.772-2A>T
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: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-80755648-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755648
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755648
    reference: chr 17
allele count: 2
allele frequency: 1.930762844399822e-5
allele num: 103586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.787C>A
  hgvsp: ENSP00000440671.2:p.His263Asn
  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.787C>A
  hgvsp: ENSP00000347719.4:p.His263Asn
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-372C>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 18593
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11192
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 265
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genotype quality: GenotypeQuality
  all individuals: 1588
  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
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genotype quality: GenotypeQuality
  all individuals: 1395
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genotype quality: GenotypeQuality
  all individuals: 740
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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
  all individuals: 23372
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3407
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His263Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-80755655-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755655
    reference: chr 17
allele count: 1
allele frequency: 9.340556697179152e-6
allele num: 107060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.794A>G
  hgvsp: ENSP00000440671.2:p.Lys265Arg
  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.794A>G
  hgvsp: ENSP00000347719.4:p.Lys265Arg
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-365A>G
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22116
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
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genotype depth: GenotypeDepth
  all individuals: 119
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6621
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
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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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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
  all individuals: 428
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genotype quality: GenotypeQuality
  all individuals: 31093
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys265Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

17-80755657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755657
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755657
    reference: chr 17
allele count: 1
allele frequency: 9.332536956846348e-6
allele num: 107152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.796C>T
  hgvsp: ENSP00000440671.2:p.Arg266Cys
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-363C>T
  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.796C>T
  hgvsp: ENSP00000347719.4:p.Arg266Cys
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22628
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31568
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg266Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

17-80755659-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755659
    reference: chr 17
allele count: 1
allele frequency: 9.321228165023024e-6
allele num: 107282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-361T>G
  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.798T>G
  hgvsp: ENST00000355528.4:c.798T>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.798T>G
  hgvsp: ENST00000539345.2:c.798T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3956
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
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genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg266Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-80755663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755663
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755663
    reference: chr 17
allele count: 1
allele frequency: 9.278503562945369e-6
allele num: 107776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-357G>A
  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.802G>A
  hgvsp: ENSP00000440671.2:p.Asp268Asn
  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.802G>A
  hgvsp: ENSP00000347719.4:p.Asp268Asn
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 533
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genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp268Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/17-80755665-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755665
    reference: chr 17
allele count: 1
allele frequency: 9.2824654228163e-6
allele num: 107730
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.804C>A
  hgvsp: ENSP00000347719.4:p.Asp268Glu
  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.804C>A
  hgvsp: ENSP00000440671.2:p.Asp268Glu
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-355C>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32759
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 778
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 501
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 739
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9781
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genotype quality: GenotypeQuality
  all individuals: 355
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genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 434
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 576
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genotype quality: GenotypeQuality
  all individuals: 3974
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genotype quality: GenotypeQuality
  all individuals: 1419
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp268Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-80755676-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755676
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755676
    reference: chr 17
allele count: 1
allele frequency: 9.261145788957009e-6
allele num: 107978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-344A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.815A>T
  hgvsp: ENSP00000440671.2:p.Tyr272Phe
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.815A>T
  hgvsp: ENSP00000347719.4:p.Tyr272Phe
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33898
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr272Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-80755678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755678
    reference: chr 17
allele count: 3
allele frequency: 2.779630865021125e-5
allele num: 107928
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.817G>A
  hgvsp: ENSP00000347719.4:p.Ala273Thr
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.817G>A
  hgvsp: ENSP00000440671.2:p.Ala273Thr
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 156
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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: 1384
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 680
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 532
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 33703
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 299
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala273Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

17-80755683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755683
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755683
    reference: chr 17
allele count: 3
allele frequency: 2.783189535207348e-5
allele num: 107790
alternate allele: A
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.817+5G>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.817+5G>A
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+5G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23332
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 428
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genotype quality: GenotypeQuality
  all individuals: 927
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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: 1355
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
hgvs: c.817+5G>A
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-80755684-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755684
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755684
    reference: chr 17
allele count: 3
allele frequency: 2.7838610296574e-5
allele num: 107764
alternate allele: C
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.817+6G>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.817+6G>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+6G>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23197
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 575
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genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 429
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1121
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
hgvs: c.817+6G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-80755694-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755694
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755694
    reference: chr 17
allele count: 1
allele frequency: 9.436989222958307e-6
allele num: 105966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.817+16A>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+16A>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.817+16A>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12723
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-80755700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755700
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755700
    reference: chr 17
allele count: 2
allele frequency: 1.902551321321893e-5
allele num: 105122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+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.817+22C>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.817+22C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21579
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-80755709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755709
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755709
    reference: chr 17
allele count: 2
allele frequency: 1.928863513617776e-5
allele num: 103688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000440671
  ensembl transcript: ENST00000539345
  gene symbol: TBCD
  hgvsc: ENST00000539345.2:c.817+31T>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.817+31T>C
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+31T>C
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8906
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7596
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.75e1
  variant carriers: 0
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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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13979
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

17-80755715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755715
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755715
    reference: chr 17
allele count: 1
allele frequency: 9.821639035122181e-6
allele num: 101816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+37G>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.817+37G>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.817+37G>A
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12221
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  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
  all individuals: 1148
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-80755724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755724
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755724
    reference: chr 17
allele count: 1
allele frequency: 1.014775125832116e-5
allele num: 98544
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.817+46C>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.817+46C>G
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+46C>G
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
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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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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

17-80755726-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755726
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755726
    reference: chr 17
allele count: 1
allele frequency: 1.034468490089792e-5
allele num: 96668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+48C>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.817+48C>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.817+48C>G
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-80755727-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80755727
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80755727
    reference: chr 17
allele count: 2
allele frequency: 2.055540709983761e-5
allele num: 97298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-342+49A>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.817+49A>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.817+49A>G
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-80758698-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80758698
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80758698
    reference: chr 17
allele count: 2
allele frequency: 1.736171394840099e-5
allele num: 115196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-341-42G>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.818-42G>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.818-42G>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 718
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-80758699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80758699
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80758699
    reference: chr 17
allele count: 1
allele frequency: 8.691722003963425e-6
allele num: 115052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-341-41C>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.818-41C>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.818-41C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10928
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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: 37291
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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: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-80758703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80758703
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 80758703
    reference: chr 17
allele count: 1
allele frequency: 8.674682072902028e-6
allele num: 115278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000347719
  ensembl transcript: ENST00000355528
  gene symbol: TBCD
  hgvsc: ENST00000355528.4:c.818-37C>T
  variant of: http://identifiers.org/hgnc/11581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141556
  ensembl protein: ENSP00000380608
  ensembl transcript: ENST00000397466
  gene symbol: TBCD
  hgvsc: ENST00000397466.2:c.-341-37C>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.818-37C>T
  variant of: http://identifiers.org/hgnc/11581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
reference allele: C

GenotypeQuality
all individuals: 1794
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518003521768171e-5
allele num: 65876
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

FS
type: SiteQuality
SIO_000300: 5.477e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

MQRankSum
type: SiteQuality
SIO_000300: -1.249e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.163e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.156e0

DP
type: SiteQuality
SIO_000300: 1.614185e6

GenotypeQuality
all individuals: 1071
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.876876876876877e-4
allele num: 15984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

FS
type: SiteQuality
SIO_000300: 1.493e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.398e1

DP
type: SiteQuality
SIO_000300: 1.619897e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.094e0

GenotypeQuality
all individuals: 25942
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041232819658476e-4
allele num: 9604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.631596e6

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

QD
type: SiteQuality
SIO_000300: 1.269e1

GenotypeQuality
all individuals: 25942
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 8.329862557267805e-4
allele num: 9604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66074
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.744316194473592e-5
allele num: 11436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 1.631596e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.657604e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 3.651e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.01e0

GenotypeQuality
all individuals: 5128
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.338018393197987e-4
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.897e0

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 7.222e0

DP
type: SiteQuality
SIO_000300: 1.660398e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.63e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5150
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00833308263891e-5
allele num: 66482
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

DP
type: SiteQuality
SIO_000300: 1.662439e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 5.194e0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.369e1

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

FS
type: SiteQuality
SIO_000300: 4.492e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 1.665874e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508024283224139e-5
allele num: 66548
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.358e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

DP
type: SiteQuality
SIO_000300: 1.66992e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 7190
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 3.81e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.055e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

DP
type: SiteQuality
SIO_000300: 1.670198e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 26346
bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.67073e6

QD
type: SiteQuality
SIO_000300: 1.244e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

FS
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

GenotypeQuality
all individuals: 47
bin: 3.25e1
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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MQRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

South Asian
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Latino
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Other
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African
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allele frequency: 1.022076860179886e-4
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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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European (Non-Finnish)
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allele frequency: 9.015235748414821e-5
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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QD
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DP
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
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Other
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

GenotypeQuality
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variant carriers: 0

Other
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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BaseQRankSum
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DP
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VQSLOD
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QD
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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QD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele num: 11564
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66574
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East Asian
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Other
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MQ
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
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DP
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Other
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East Asian
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African
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allele frequency: 0.0e0
allele num: 9784
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European (Non-Finnish)
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allele frequency: 4.507482420818559e-5
allele num: 66556
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Latino
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South Asian
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11564
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European (Non-Finnish)
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African
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Other
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East Asian
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European (Finnish)
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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East Asian
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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Other
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Latino
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South Asian
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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South Asian
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African
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European (Non-Finnish)
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Other
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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GenotypeQuality
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Latino
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South Asian
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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DP
type: SiteQuality
SIO_000300: 1.666779e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.356e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.349e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.6618e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 5181
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.101281269066504e-5
allele num: 16390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 3.59e0

QD
type: SiteQuality
SIO_000300: 1.403e1

VQSLOD
type: SiteQuality
SIO_000300: -1.837e0

DP
type: SiteQuality
SIO_000300: 1.657452e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

GenotypeQuality
all individuals: 7228
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 6.469e0

VQSLOD
type: SiteQuality
SIO_000300: -8.302e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -1.715e0

QD
type: SiteQuality
SIO_000300: 1.327e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.655455e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.865e0

GenotypeQuality
all individuals: 292
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 4.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 1.653552e6

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5172
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.653552e6

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

FS
type: SiteQuality
SIO_000300: 4.278e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66204
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 4.278e0

DP
type: SiteQuality
SIO_000300: 1.653552e6

MQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

GenotypeQuality
all individuals: 5162
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.118453255017132e-5
allele num: 16344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.798e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.653547e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.076e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeQuality
all individuals: 1951
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 127
allele frequency: 1.479152108082926e-2
allele num: 8586
num of homozygotes: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.028383381324558e-4
allele num: 9724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.556522790472736e-5
allele num: 66168
num of homozygotes: 0

South Asian
type: Population
allele count: 210
allele frequency: 1.284717973816224e-2
allele num: 16346
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

DP
type: SiteQuality
SIO_000300: 1.669013e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 1.905e0

GenotypeQuality
all individuals: 2507
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 1.660367e6

QD
type: SiteQuality
SIO_000300: 1.207e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.046e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
all individuals: 399
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 9
allele frequency: 9.25925925925926e-4
allele num: 9720
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.046e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.660367e6

GenotypeQuality
all individuals: 153
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.143260842855388e-5
allele num: 16278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.244e1

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.781e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.649042e6

VQSLOD
type: SiteQuality
SIO_000300: -1.643e0

GenotypeQuality
all individuals: 5108
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.855e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.614e0

DP
type: SiteQuality
SIO_000300: 1.639939e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

QD
type: SiteQuality
SIO_000300: 1.025e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.947e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeQuality
all individuals: 5074
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.06041325819548e-4
allele num: 66012
num of homozygotes: 0

African
type: Population
allele count: 360
allele frequency: 3.70904595095817e-2
allele num: 9706
num of homozygotes: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

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

Latino
type: Population
allele count: 15
allele frequency: 1.298476454293629e-3
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 1.653455e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

FS
type: SiteQuality
SIO_000300: 3.202e0

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.357e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 7753
bin: 9.75e1
variant carriers: 11

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

East Asian
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allele count: 10
allele frequency: 1.165772907437631e-3
allele num: 8578
num of homozygotes: 0

South Asian
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allele frequency: 6.170554115759595e-5
allele num: 16206
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9706
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.202e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 5
allele frequency: 3.087182020251914e-4
allele num: 16196
num of homozygotes: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
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 count: 1
allele frequency: 1.515381118351265e-5
allele num: 65990
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65872
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East Asian
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allele frequency: 1.166044776119403e-4
allele num: 8576
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African
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allele frequency: 0.0e0
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Other
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South Asian
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DP
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.067e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8574
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African
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allele count: 2
allele frequency: 2.068680182043856e-4
allele num: 9668
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65796
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.4549e1

DP
type: SiteQuality
SIO_000300: 1.63265e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 8.48e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9996
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
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.557452863749556e-5
allele num: 28110
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.046747e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.539e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.632964718272775e-4
allele num: 3798
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4874
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28062
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3190
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 484
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South Asian
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allele frequency: 0.0e0
allele num: 9994
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.78e-2

MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.336e0

DP
type: SiteQuality
SIO_000300: 1.047872e6

QD
type: SiteQuality
SIO_000300: 1.98e1

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: 10024
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.042483660130719e-4
allele num: 4896
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28144
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.24e1

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

DP
type: SiteQuality
SIO_000300: 1.054941e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.469310004233103e-4
allele num: 28348
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2792
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DP
type: SiteQuality
SIO_000300: 1.065064e6

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

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

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

GenotypeQuality
all individuals: 2483
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.082465639316951e-4
allele num: 4802
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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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 count: 0
allele frequency: 0.0e0
allele num: 3548
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32492
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.601e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 2.174e1

DP
type: SiteQuality
SIO_000300: 1.144981e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 468
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3596
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.067484662576687e-5
allele num: 32600
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.963e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 865

European (Finnish)
type: Population
allele count: 983
allele frequency: 3.729135053110774e-1
allele num: 2636
num of homozygotes: 11

Other
type: Population
allele count: 130
allele frequency: 3.350515463917526e-1
allele num: 388
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Latino
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allele count: 1085
allele frequency: 3.38216957605985e-1
allele num: 3208
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African
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allele count: 967
allele frequency: 2.007056870070569e-1
allele num: 4818
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South Asian
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allele count: 2705
allele frequency: 3.020321572130416e-1
allele num: 8956
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European (Non-Finnish)
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allele count: 8728
allele frequency: 3.441368977209999e-1
allele num: 25362
num of homozygotes: 151

East Asian
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allele count: 879
allele frequency: 3.324508320726172e-1
allele num: 2644
num of homozygotes: 17

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.864e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.689e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 473

South Asian
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allele frequency: 1.985261277355962e-1
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num of homozygotes: 1

East Asian
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allele frequency: 1.539334341906203e-1
allele num: 2644
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European (Non-Finnish)
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allele count: 3703
allele frequency: 1.46005835501932e-1
allele num: 25362
num of homozygotes: 10

European (Finnish)
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allele count: 259
allele frequency: 9.825493171471927e-2
allele num: 2636
num of homozygotes: 0

African
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allele count: 1738
allele frequency: 3.607305936073059e-1
allele num: 4818
num of homozygotes: 112

Other
type: Population
allele count: 60
allele frequency: 1.54639175257732e-1
allele num: 388
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Latino
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allele count: 497
allele frequency: 1.549251870324189e-1
allele num: 3208
num of homozygotes: 3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.689e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.198702e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 18

South Asian
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allele frequency: 5.917820455560518e-3
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num of homozygotes: 0

Latino
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allele frequency: 5.29925187032419e-3
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European (Finnish)
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allele frequency: 7.587253414264037e-4
allele num: 2636
num of homozygotes: 0

European (Non-Finnish)
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allele count: 111
allele frequency: 4.376626449018216e-3
allele num: 25362
num of homozygotes: 0

Other
type: Population
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allele frequency: 2.577319587628866e-3
allele num: 388
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African
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allele count: 122
allele frequency: 2.53217102532171e-2
allele num: 4818
num of homozygotes: 0

East Asian
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allele frequency: 5.6732223903177e-3
allele num: 2644
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.198702e6

GenotypeQuality
all individuals: 1434
bin: 5.75e1
variant carriers: 67

Latino
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allele count: 44
allele frequency: 1.371571072319202e-2
allele num: 3208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 344
allele frequency: 1.356359908524564e-2
allele num: 25362
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 5.154639175257732e-3
allele num: 388
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East Asian
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allele count: 35
allele frequency: 1.32375189107413e-2
allele num: 2644
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South Asian
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allele count: 82
allele frequency: 9.15587315765967e-3
allele num: 8956
num of homozygotes: 0

European (Finnish)
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allele count: 25
allele frequency: 9.484066767830045e-3
allele num: 2636
num of homozygotes: 0

African
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allele count: 34
allele frequency: 7.056870070568701e-3
allele num: 4818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 6.32e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.689e-1

FS
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.864e1

DP
type: SiteQuality
SIO_000300: 1.198702e6

GenotypeQuality
all individuals: 1552
bin: 3.25e1
variant carriers: 5

East Asian
type: Population
allele count: 6
allele frequency: 2.26928895612708e-3
allele num: 2644
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 6.226650062266501e-4
allele num: 4818
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 9.351620947630922e-4
allele num: 3208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.138088012139606e-3
allele num: 2636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 6.702941408406277e-4
allele num: 25362
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.699419383653417e-4
allele num: 8956
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.864e1

DP
type: SiteQuality
SIO_000300: 1.198702e6

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 6.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.689e-1

FS
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 3.154325368661777e-4
allele num: 25362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2644
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.864e1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 1.198702e6

QD
type: SiteQuality
SIO_000300: 6.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.689e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeQuality
all individuals: 246
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.777461784571632e-5
allele num: 56260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.684e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

FS
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.532082e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

QD
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.14e-1

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 6.954102920723226e-4
allele num: 7190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.862934011997818e-4
allele num: 44008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.463054187192118e-4
allele num: 4060
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.913896802785692e-5
allele num: 12636
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.779359430604982e-4
allele num: 5620
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.515443e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

FS
type: SiteQuality
SIO_000300: 7.33e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.069e0

QD
type: SiteQuality
SIO_000300: 2.793e1

GenotypeQuality
all individuals: 1198
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7228
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.018122581958868e-4
allele num: 9822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56772
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.739130434782609e-4
allele num: 5750
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 5.7733e1

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 1.608585e6

VQSLOD
type: SiteQuality
SIO_000300: -1.653e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.335e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

GenotypeQuality
all individuals: 956
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708058620571858e-5
allele num: 58546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.209e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.325e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 1.129e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.62596e6

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

QD
type: SiteQuality
SIO_000300: 8.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 1422
bin: 7.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.624271330153684e-5
allele num: 15096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8858
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.217e0

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -6.311e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.857e1

DP
type: SiteQuality
SIO_000300: 1.632207e6

GenotypeQuality
all individuals: 517
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.126633618747183e-4
allele num: 8876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.388e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

DP
type: SiteQuality
SIO_000300: 1.63723e6

QD
type: SiteQuality
SIO_000300: 9.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e0

GenotypeQuality
all individuals: 33525
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6078
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.608511763150938e-5
allele num: 15132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58942
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.79e0

MQ
type: SiteQuality
SIO_000300: 5.795e1

DP
type: SiteQuality
SIO_000300: 1.649233e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.373e0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

FS
type: SiteQuality
SIO_000300: 1.978e0

VQSLOD
type: SiteQuality
SIO_000300: -2.197e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.696467953720354e-5
allele num: 58946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.317e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

MQ
type: SiteQuality
SIO_000300: 5.582e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.650348e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.91e0

GenotypeQuality
all individuals: 944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.639344262295082e-4
allele num: 6100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15074
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.473e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 5.834e1

VQSLOD
type: SiteQuality
SIO_000300: -2.813e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.393e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.65977e6

GenotypeQuality
all individuals: 575
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variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 2.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.902476780185758e-4
allele num: 10336
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.658901e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
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num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.121830827911151e-4
allele num: 8914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.610284521012791e-4
allele num: 7662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58904
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.093032731223686e-5
allele num: 58904
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15074
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6096
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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.1e-3

QD
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MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.79e-1

MQ
type: SiteQuality
SIO_000300: 5.845e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.727712508638563e-5
allele num: 57880
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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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: 820
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.356e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 5.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
SIO_000300: 1.585403e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57364
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.777822963264199e-5
allele num: 14754
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.136621959536258e-4
allele num: 8798
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5992
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

FS
type: SiteQuality
SIO_000300: 1.773e0

DP
type: SiteQuality
SIO_000300: 1.527801e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56534
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.148897058823529e-4
allele num: 8704
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.358695652173913e-4
allele num: 7360
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.032e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 1.2216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

DP
type: SiteQuality
SIO_000300: 1.443751e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.391207568169171e-4
allele num: 7188
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14328
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55478
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.66e-1

FS
type: SiteQuality
SIO_000300: 3.979e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.005e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.337e0

QD
type: SiteQuality
SIO_000300: 4.44e0

DP
type: SiteQuality
SIO_000300: 1.405114e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.18962645729241e-4
allele num: 8406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13942
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5698
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53586
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
SIO_000300: 7.65e0

DP
type: SiteQuality
SIO_000300: 1.376958e6

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.022e0

FS
type: SiteQuality
SIO_000300: 3.336e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.905487804878049e-5
allele num: 52480
num of homozygotes: 0

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6774
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5652
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South Asian
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allele count: 0
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Latino
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.644e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.686e1

DP
type: SiteQuality
SIO_000300: 1.373413e6

FS
type: SiteQuality
SIO_000300: 4.49e0

QD
type: SiteQuality
SIO_000300: 1.321e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5696
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Other
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allele count: 0
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East Asian
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allele count: 2
allele frequency: 2.931691586045148e-4
allele num: 6822
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: -1.662e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.373489e6

FS
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QD
type: SiteQuality
SIO_000300: 1.144e1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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Other
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Latino
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allele count: 2
allele frequency: 1.742767514813524e-4
allele num: 11476
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64146
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.538945e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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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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East Asian
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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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Latino
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allele frequency: 8.715356458079135e-5
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Other
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South Asian
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MQ
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

Other
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East Asian
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African
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Latino
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allele frequency: 8.710801393728223e-5
allele num: 11480
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