4-38016477-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016477
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016477
    reference: chr 4
allele count: 2
allele frequency: 1.698513800424628e-5
allele num: 117750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5821C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.378C>G
  hgvsp: ENST00000446803.2:c.378C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.765C>G
  hgvsp: ENST00000261439.4:c.765C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.765C>G
  hgvsp: ENST00000508802.1:c.765C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45852
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu255Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-38016486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016486
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016486
    reference: chr 4
allele count: 1
allele frequency: 8.500365515717176e-6
allele num: 117642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.774C>T
  hgvsp: ENST00000508802.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.774C>T
  hgvsp: ENST00000261439.4:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.387C>T
  hgvsp: ENST00000446803.2:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5812C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6058
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser258Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

4-38016489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016489
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016489
    reference: chr 4
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5809C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.390C>T
  hgvsp: ENST00000446803.2:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.777C>T
  hgvsp: ENST00000261439.4:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.777C>T
  hgvsp: ENST00000508802.1:c.777C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 45682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly259Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

4-38016492-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016492
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016492
    reference: chr 4
allele count: 180
allele frequency: 1.601965077161318e-3
allele num: 112362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.780C>T
  hgvsp: ENST00000508802.1:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.780C>T
  hgvsp: ENST00000261439.4:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5806C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.393C>T
  hgvsp: ENST00000446803.2:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1126
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 44115
  bin: 6.25e1
  variant carriers: 7
hgvs: p.Phe260Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

4-38016498-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016498
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016498
    reference: chr 4
allele count: 1
allele frequency: 8.485362749257531e-6
allele num: 117850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.786C>G
  hgvsp: ENSP00000423651.1:p.Ser262Arg
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.399C>G
  hgvsp: ENSP00000396877.2:p.Ser133Arg
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5800C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.786C>G
  hgvsp: ENSP00000261439.4:p.Ser262Arg
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser262Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

4-38016499-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016499
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016499
    reference: chr 4
allele count: 2
allele frequency: 1.697879348693482e-5
allele num: 117794
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.787T>A
  hgvsp: ENSP00000261439.4:p.Ser263Thr
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.400T>A
  hgvsp: ENSP00000396877.2:p.Ser134Thr
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.787T>A
  hgvsp: ENSP00000423651.1:p.Ser263Thr
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5799T>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 46794
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genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 115
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genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 325
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genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser263Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-38016500-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016500
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016500
    reference: chr 4
allele count: 2
allele frequency: 1.698369565217391e-5
allele num: 117760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.788C>A
  hgvsp: ENSP00000423651.1:p.Ser263Tyr
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.401C>A
  hgvsp: ENSP00000396877.2:p.Ser134Tyr
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.788C>A
  hgvsp: ENSP00000261439.4:p.Ser263Tyr
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5798C>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27301
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
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genotype quality: GenotypeQuality
  all individuals: 1986
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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
  all individuals: 326
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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: 411
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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: 372
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genotype quality: GenotypeQuality
  all individuals: 142
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genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser263Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

4-38016504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016504
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016504
    reference: chr 4
allele count: 2
allele frequency: 1.705175206752494e-5
allele num: 117290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.1C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.792C>T
  hgvsp: ENST00000261439.4:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5794C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.405C>T
  hgvsp: ENST00000446803.2:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.792C>T
  hgvsp: ENST00000508802.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46512
  bin: 6.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6072
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe264Phe
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-38016505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016505
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016505
    reference: chr 4
allele count: 1
allele frequency: 8.525003836251726e-6
allele num: 117302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.2G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.406G>A
  hgvsp: ENSP00000396877.2:p.Glu136Lys
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.793G>A
  hgvsp: ENSP00000261439.4:p.Glu265Lys
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.793G>A
  hgvsp: ENSP00000423651.1:p.Glu265Lys
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5793G>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu265Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-38016505-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016505
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016505
    reference: chr 4
allele count: 1
allele frequency: 8.525003836251726e-6
allele num: 117302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5793G>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.793G>T
  hgvsp: ENSP00000261439.4:p.Glu265Ter
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.793G>T
  hgvsp: ENSP00000423651.1:p.Glu265Ter
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.2G>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.406G>T
  hgvsp: ENSP00000396877.2:p.Glu136Ter
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu265Ter
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

4-38016513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016513
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016513
    reference: chr 4
allele count: 1
allele frequency: 8.567658801555887e-6
allele num: 116718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5785C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.10C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.414C>T
  hgvsp: ENST00000446803.2:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.801C>T
  hgvsp: ENST00000508802.1:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.801C>T
  hgvsp: ENST00000261439.4:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser267Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

4-38016517-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016517
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016517
    reference: chr 4
allele count: 24
allele frequency: 2.059520131809288e-4
allele num: 116532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.418A>G
  hgvsp: ENSP00000396877.2:p.Ile140Val
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.14A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.805A>G
  hgvsp: ENSP00000423651.1:p.Ile269Val
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5781A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.805A>G
  hgvsp: ENSP00000261439.4:p.Ile269Val
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26614
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile269Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

4-38016519-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016519
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016519
    reference: chr 4
allele count: 2
allele frequency: 1.717121417655442e-5
allele num: 116474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5779T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.807T>G
  hgvsp: ENSP00000261439.4:p.Ile269Met
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.16T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.420T>G
  hgvsp: ENSP00000396877.2:p.Ile140Met
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.807T>G
  hgvsp: ENSP00000423651.1:p.Ile269Met
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile269Met
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

4-38016522-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016522
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016522
    reference: chr 4
allele count: 21
allele frequency: 1.807322236948552e-4
allele num: 116194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5776G>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.810G>C
  hgvsp: ENSP00000423651.1:p.Glu270Asp
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.423G>C
  hgvsp: ENSP00000396877.2:p.Glu141Asp
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.810G>C
  hgvsp: ENSP00000261439.4:p.Glu270Asp
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.19G>C
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22734
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26481
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.75e1
  variant carriers: 22
hgvs: p.Glu270Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/4-38016524-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016524
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016523
    reference: chr 4
allele count: 1
allele frequency: 8.616529951058109e-6
allele num: 116056
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.814delC
  hgvsp: ENSP00000261439.4:p.His272ThrfsTer39
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.814delC
  hgvsp: ENSP00000423651.1:p.His272ThrfsTer39
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.427delC
  hgvsp: ENSP00000396877.2:p.His143ThrfsTer39
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.23delC
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5772delC
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His272ThrfsTer39
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AC
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

4-38016525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016525
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016525
    reference: chr 4
allele count: 51
allele frequency: 4.401712352413174e-4
allele num: 115864
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.813C>T
  hgvsp: ENST00000261439.4:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.813C>T
  hgvsp: ENST00000508802.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.426C>T
  hgvsp: ENST00000446803.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5773C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.22C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22548
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26354
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn271Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-38016528-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016528
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016528
    reference: chr 4
allele count: 1
allele frequency: 8.661308203991131e-6
allele num: 115456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.429C>A
  hgvsp: ENSP00000396877.2:p.His143Gln
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.816C>A
  hgvsp: ENSP00000261439.4:p.His272Gln
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.816C>A
  hgvsp: ENSP00000423651.1:p.His272Gln
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.25C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5770C>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His272Gln
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

4-38016528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016528
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016528
    reference: chr 4
allele count: 1
allele frequency: 8.661308203991131e-6
allele num: 115456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.429C>T
  hgvsp: ENST00000446803.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.816C>T
  hgvsp: ENST00000508802.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.816C>T
  hgvsp: ENST00000261439.4:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.25C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5770C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His272His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-38016532-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016532
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016532
    reference: chr 4
allele count: 1
allele frequency: 8.693082045308344e-6
allele num: 115034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.29A>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.820A>T
  hgvsp: ENSP00000261439.4:p.Ile274Phe
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.820A>T
  hgvsp: ENSP00000423651.1:p.Ile274Phe
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.433A>T
  hgvsp: ENSP00000396877.2:p.Ile145Phe
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5766A>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile274Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

4-38016544-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016544
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016544
    reference: chr 4
allele count: 84
allele frequency: 7.371007371007371e-4
allele num: 113960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.445A>G
  hgvsp: ENSP00000396877.2:p.Asn149Asp
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.832A>G
  hgvsp: ENSP00000261439.4:p.Asn278Asp
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.832A>G
  hgvsp: ENSP00000423651.1:p.Asn278Asp
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5754A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.41A>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25932
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22051
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45216
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn278Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-38016567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016567
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016567
    reference: chr 4
allele count: 2
allele frequency: 1.816629425763438e-5
allele num: 110094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.468C>T
  hgvsp: ENST00000446803.2:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5731C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.855C>T
  hgvsp: ENST00000261439.4:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.855C>T
  hgvsp: ENST00000508802.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.64C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile285Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

4-38016568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016568
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016568
    reference: chr 4
allele count: 1
allele frequency: 9.081332413091649e-6
allele num: 110116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.856G>A
  hgvsp: ENSP00000423651.1:p.Glu286Lys
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.469G>A
  hgvsp: ENSP00000396877.2:p.Glu157Lys
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.65G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.856G>A
  hgvsp: ENSP00000261439.4:p.Glu286Lys
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5730G>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu286Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

4-38016577-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016577
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016577
    reference: chr 4
allele count: 1
allele frequency: 9.217949190664061e-6
allele num: 108484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.865C>G
  hgvsp: ENSP00000423651.1:p.Arg289Gly
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.865C>G
  hgvsp: ENSP00000261439.4:p.Arg289Gly
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.478C>G
  hgvsp: ENSP00000396877.2:p.Arg160Gly
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5721C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.74C>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg289Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

4-38016587-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016587
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016586
    reference: chr 4
allele count: 1
allele frequency: 9.481009537895596e-6
allele num: 105474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5710delC
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.85delC
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.876delC
  hgvsp: ENSP00000261439.4:p.Phe293SerfsTer18
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.876delC
  hgvsp: ENSP00000423651.1:p.Phe293SerfsTer18
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.489delC
  hgvsp: ENSP00000396877.2:p.Phe164SerfsTer18
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe293SerfsTer18
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: TC
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

4-38016588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016588
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016588
    reference: chr 4
allele count: 1
allele frequency: 9.505884142284074e-6
allele num: 105198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.489C>T
  hgvsp: ENST00000446803.2:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5710C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.85C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.876C>T
  hgvsp: ENST00000261439.4:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.876C>T
  hgvsp: ENST00000508802.1:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu292Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

4-38016593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016593
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016593
    reference: chr 4
allele count: 10
allele frequency: 9.641527989355753e-5
allele num: 103718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.494C>T
  hgvsp: ENSP00000396877.2:p.Thr165Met
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5705C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.881C>T
  hgvsp: ENSP00000423651.1:p.Thr294Met
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.881C>T
  hgvsp: ENSP00000261439.4:p.Thr294Met
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.90C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20711
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18425
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr294Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

4-38016599-A-AAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016599
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016601
    reference: chr 4
allele count: 7
allele frequency: 6.93330163824013e-5
allele num: 100962
alternate allele: AAT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+8_882+9dupAT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+8_495+9dupAT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+8_882+9dupAT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5696_301-5695dupAT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+8_91+9dupAT
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15769
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
hgvs: c.882+8_882+9dupAT
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

4-38016600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016600
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016600
    reference: chr 4
allele count: 1
allele frequency: 9.910606330895324e-6
allele num: 100902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+6A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+6A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+6A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5698A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+6A>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 3.25e1
  variant carriers: 0
hgvs: c.882+6A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

4-38016602-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016602
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016602
    reference: chr 4
allele count: 1
allele frequency: 9.99520230289461e-6
allele num: 100048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+8A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+8A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5696A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+8A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+8A>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2639
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genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
hgvs: c.882+8A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

4-38016603-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016603
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016603
    reference: chr 4
allele count: 1
allele frequency: 1.011858987331525e-5
allele num: 98828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+9T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+9T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+9T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5695T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+9T>C
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 611
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
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genotype quality: GenotypeQuality
  all individuals: 403
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
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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: 3605
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genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

4-38016607-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016607
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016607
    reference: chr 4
allele count: 2
allele frequency: 2.054738226349963e-5
allele num: 97336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5691C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+13C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+13C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+13C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+13C>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13129
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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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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genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

4-38016607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016607
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016607
    reference: chr 4
allele count: 1
allele frequency: 1.027369113174982e-5
allele num: 97336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+13C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+13C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+13C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5691C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+13C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3650
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-38016617-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016617
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016617
    reference: chr 4
allele count: 1
allele frequency: 1.057529610829103e-5
allele num: 94560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+23C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+23C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5681C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+23C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+23C>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

4-38016618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016618
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016618
    reference: chr 4
allele count: 2
allele frequency: 2.116805317414957e-5
allele num: 94482
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+24A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5680A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+24A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+24A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+24A>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10369
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5969
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 17451
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 76
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genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-38016619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016619
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016619
    reference: chr 4
allele count: 3
allele frequency: 3.192576196151881e-5
allele num: 93968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+25C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5679C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+25C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+25C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+25C>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20280
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6857
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8370
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6355
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genotype quality: GenotypeQuality
  all individuals: 3373
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genotype quality: GenotypeQuality
  all individuals: 568
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17634
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 549
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genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 751
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 507
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
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genotype quality: GenotypeQuality
  all individuals: 556
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genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

4-38016624-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016624
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016624
    reference: chr 4
allele count: 3
allele frequency: 3.249074013906037e-5
allele num: 92334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+30C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5674C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+30C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+30C>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+30C>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4589
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-38016625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016625
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016625
    reference: chr 4
allele count: 2
allele frequency: 2.168397770887091e-5
allele num: 92234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5673C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+31C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+31C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+31C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+31C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

4-38016639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38016639
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38016639
    reference: chr 4
allele count: 3
allele frequency: 3.588860178007465e-5
allele num: 83592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.882+45C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.91+45C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-5659C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.495+45C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.882+45C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20409
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 15091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5798
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-38019932-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38019932
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38019932
    reference: chr 4
allele count: 1
allele frequency: 8.408731626921395e-6
allele num: 118924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2366T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.92-43T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.883-43T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.883-43T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.496-43T>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
  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: 1502
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
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genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

4-38019979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38019979
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38019979
    reference: chr 4
allele count: 40
allele frequency: 3.305785123966942e-4
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.500G>A
  hgvsp: ENSP00000396877.2:p.Gly167Asp
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.887G>A
  hgvsp: ENSP00000261439.4:p.Gly296Asp
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.96G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2319G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.887G>A
  hgvsp: ENSP00000423651.1:p.Gly296Asp
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23913
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly296Asp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

4-38019999-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38019999
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38019999
    reference: chr 4
allele count: 2
allele frequency: 1.65338447802652e-5
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.907A>G
  hgvsp: ENSP00000261439.4:p.Ile303Val
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2299A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.116A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.907A>G
  hgvsp: ENSP00000423651.1:p.Ile303Val
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.520A>G
  hgvsp: ENSP00000396877.2:p.Ile174Val
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile303Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

4-38020007-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020007
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020007
    reference: chr 4
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.915T>A
  hgvsp: ENST00000508802.1:c.915T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.915T>A
  hgvsp: ENST00000261439.4:c.915T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.124T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.528T>A
  hgvsp: ENST00000446803.2:c.528T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2291T>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro305Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

4-38020008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020008
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020008
    reference: chr 4
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.916G>A
  hgvsp: ENSP00000423651.1:p.Asp306Asn
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.529G>A
  hgvsp: ENSP00000396877.2:p.Asp177Asn
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.916G>A
  hgvsp: ENSP00000261439.4:p.Asp306Asn
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2290G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.125G>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp306Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/4-38020011-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020011
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020011
    reference: chr 4
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.128A>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2287A>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.919A>C
  hgvsp: ENSP00000423651.1:p.Thr307Pro
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.532A>C
  hgvsp: ENSP00000396877.2:p.Thr178Pro
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.919A>C
  hgvsp: ENSP00000261439.4:p.Thr307Pro
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr307Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/4-38020013-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020013
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020012
    reference: chr 4
allele count: 3
allele frequency: 2.483896073788273e-5
allele num: 120778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.137delA
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.928delA
  hgvsp: ENSP00000261439.4:p.Ile310Ter
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.541delA
  hgvsp: ENSP00000396877.2:p.Ile181Ter
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.928delA
  hgvsp: ENSP00000423651.1:p.Ile310Ter
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2278delA
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Ile310Ter
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: CA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

4-38020020-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020020
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020020
    reference: chr 4
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.928A>T
  hgvsp: ENSP00000261439.4:p.Ile310Leu
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.541A>T
  hgvsp: ENSP00000396877.2:p.Ile181Leu
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.137A>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.928A>T
  hgvsp: ENSP00000423651.1:p.Ile310Leu
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2278A>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile310Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

4-38020026-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020026
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020026
    reference: chr 4
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.934T>A
  hgvsp: ENSP00000261439.4:p.Leu312Met
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2272T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.934T>A
  hgvsp: ENSP00000423651.1:p.Leu312Met
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.143T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.547T>A
  hgvsp: ENSP00000396877.2:p.Leu183Met
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu312Met
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

4-38020026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020026
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020026
    reference: chr 4
allele count: 17
allele frequency: 1.409057754790796e-4
allele num: 120648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.547T>C
  hgvsp: ENST00000446803.2:c.547T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2272T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.934T>C
  hgvsp: ENST00000261439.4:c.934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.934T>C
  hgvsp: ENST00000508802.1:c.934T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.143T>C
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu312Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-38020029-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020029
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020029
    reference: chr 4
allele count: 2
allele frequency: 1.658512314453935e-5
allele num: 120590
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2269G>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.146G>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.937G>C
  hgvsp: ENSP00000261439.4:p.Glu313Gln
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.550G>C
  hgvsp: ENSP00000396877.2:p.Glu184Gln
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.937G>C
  hgvsp: ENSP00000423651.1:p.Glu313Gln
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu313Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/4-38020041-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020041
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020041
    reference: chr 4
allele count: 5
allele frequency: 4.155446959875004e-5
allele num: 120324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.949A>C
  hgvsp: ENSP00000423651.1:p.Lys317Gln
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.562A>C
  hgvsp: ENSP00000396877.2:p.Lys188Gln
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2257A>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.949A>C
  hgvsp: ENSP00000261439.4:p.Lys317Gln
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.158A>C
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys317Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-38020045-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020045
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020045
    reference: chr 4
allele count: 2
allele frequency: 1.663616702711695e-5
allele num: 120220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.566A>C
  hgvsp: ENSP00000396877.2:p.Glu189Ala
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2253A>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.953A>C
  hgvsp: ENSP00000423651.1:p.Glu318Ala
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.162A>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.953A>C
  hgvsp: ENSP00000261439.4:p.Glu318Ala
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23025
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu318Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

4-38020060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020060
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020060
    reference: chr 4
allele count: 2
allele frequency: 1.673304106288277e-5
allele num: 119524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.968C>T
  hgvsp: ENSP00000423651.1:p.Ser323Phe
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.581C>T
  hgvsp: ENSP00000396877.2:p.Ser194Phe
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.177C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.968C>T
  hgvsp: ENSP00000261439.4:p.Ser323Phe
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2238C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser323Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

4-38020071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020071
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020071
    reference: chr 4
allele count: 2
allele frequency: 1.691703884152118e-5
allele num: 118224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+7G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+7G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2227G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+7G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+7G>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
hgvs: c.972+7G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

4-38020078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020078
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020078
    reference: chr 4
allele count: 2
allele frequency: 1.706746769981738e-5
allele num: 117182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2220G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+14G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+14G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+14G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+14G>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6513
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

4-38020079-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020079
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020080
    reference: chr 4
allele count: 20
allele frequency: 1.70995708007729e-4
allele num: 116962
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+22dupT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+22dupT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+22dupT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+22dupT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2212dupT
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17730
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21991
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38138
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3427
  bin: 9.75e1
  variant carriers: 19
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

4-38020079-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020079
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020079
    reference: chr 4
allele count: 2
allele frequency: 1.70995708007729e-5
allele num: 116962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2219G>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+15G>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+15G>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+15G>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+15G>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-38020079-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020079
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020078
    reference: chr 4
allele count: 3
allele frequency: 2.564935620115935e-5
allele num: 116962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+22delT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+22delT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+22delT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+22delT
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2212delT
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: GT
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

4-38020083-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020083
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020083
    reference: chr 4
allele count: 2
allele frequency: 1.723692148582263e-5
allele num: 116030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+19T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2215T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+19T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+19T>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+19T>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20983
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

4-38020086-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020086
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020086
    reference: chr 4
allele count: 29
allele frequency: 2.504793656825994e-4
allele num: 115778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2212T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+22T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+22T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+22T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+22T>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20564
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14380
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

4-38020092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020092
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020092
    reference: chr 4
allele count: 1
allele frequency: 8.725851206785222e-6
allele num: 114602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+28A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+28A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+28A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2206A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+28A>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-38020093-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020093
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020093
    reference: chr 4
allele count: 1
allele frequency: 8.72691730373163e-6
allele num: 114588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+29T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+29T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+29T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+29T>C
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2205T>C
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

4-38020098-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020098
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020098
    reference: chr 4
allele count: 1
allele frequency: 8.804366966015144e-6
allele num: 113580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2200A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+34A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+34A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+34A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+34A>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5742
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 246
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genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-38020101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020101
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020101
    reference: chr 4
allele count: 1
allele frequency: 8.865248226950355e-6
allele num: 112800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2197G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+37G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+37G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+37G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+37G>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6580
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

4-38020111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38020111
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38020111
    reference: chr 4
allele count: 2
allele frequency: 1.85106343594395e-5
allele num: 108046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-2187A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.972+47A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.585+47A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.181+47A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.972+47A>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5778
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7676
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

4-38022161-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022161
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022161
    reference: chr 4
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-137A>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-51A>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-51A>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-51A>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-51A>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

4-38022167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022167
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022167
    reference: chr 4
allele count: 2992
allele frequency: 2.466733721371214e-2
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-131C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-45C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-45C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-45C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-45C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 2.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 9.75e1
  variant carriers: 2276
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39838
  bin: 9.75e1
  variant carriers: 2895
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 77
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

4-38022168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022168
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022168
    reference: chr 4
allele count: 5
allele frequency: 4.1209244057627e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-44G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-44G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-44G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-44G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-130G>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6644
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38565
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

4-38022174-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022174
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022174
    reference: chr 4
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-38T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-38T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-124T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-38T>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-38T>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

4-38022183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022183
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022183
    reference: chr 4
allele count: 22
allele frequency: 1.812967663249497e-4
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-29C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-29C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-115C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-29C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-29C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38562
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

4-38022185-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022185
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022185
    reference: chr 4
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-27G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-113G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-27G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-27G>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-27G>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38557
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

4-38022188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022188
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022188
    reference: chr 4
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-24C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-24C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-110C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-24C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-24C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38557
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-38022188-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022188
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022188
    reference: chr 4
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-24C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-24C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-24C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-110C>A
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-24C>A
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-38022189-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022189
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022189
    reference: chr 4
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-23A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-23A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-109A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-23A>G
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-23A>G
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

4-38022193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38022193
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 38022193
    reference: chr 4
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000396877
  ensembl transcript: ENST00000446803
  gene symbol: TBC1D1
  hgvsc: ENST00000446803.2:c.586-19C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000421641
  ensembl transcript: ENST00000510573
  gene symbol: TBC1D1
  hgvsc: ENST00000510573.2:c.301-105C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000261439
  ensembl transcript: ENST00000261439
  gene symbol: TBC1D1
  hgvsc: ENST00000261439.4:c.973-19C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl transcript: ENST00000491553
  gene symbol: TBC1D1
  hgvsc: ENST00000491553.1:n.182-19C>T
  variant of: http://identifiers.org/hgnc/11578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000065882
  ensembl protein: ENSP00000423651
  ensembl transcript: ENST00000508802
  gene symbol: TBC1D1
  hgvsc: ENST00000508802.1:c.973-19C>T
  variant of: http://identifiers.org/hgnc/11578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38555
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.091285665708368e-5
allele num: 64698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.308e-1

DP
type: SiteQuality
SIO_000300: 1.522535e6

MQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.623e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 1.838e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

GenotypeQuality
all individuals: 601
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546359868868683e-5
allele num: 64668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

FS
type: SiteQuality
SIO_000300: 1.646e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.447e0

DP
type: SiteQuality
SIO_000300: 1.552717e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

GenotypeQuality
all individuals: 121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537799101925324e-5
allele num: 65028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.166e1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.733e0

DP
type: SiteQuality
SIO_000300: 1.552517e6

GenotypeQuality
all individuals: 457
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 388
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 365
bin: 3.75e1
variant carriers: 12

GenotypeQuality
all individuals: 940
bin: 7.75e1
variant carriers: 5

Latino
type: Population
allele count: 2
allele frequency: 1.760253476500616e-4
allele num: 11362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

African
type: Population
allele count: 43
allele frequency: 5.02453844356158e-3
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.900709219858156e-3
allele num: 5640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 109
allele frequency: 1.76758667661272e-3
allele num: 61666
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.914004914004914e-3
allele num: 814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.03905e2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.749e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.347e1

DP
type: SiteQuality
SIO_000300: 1.540704e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65044
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.511e0

DP
type: SiteQuality
SIO_000300: 1.506007e6

MQ
type: SiteQuality
SIO_000300: 5.881e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.274047649382087e-4
allele num: 15698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.951e1

VQSLOD
type: SiteQuality
SIO_000300: -2.473e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.504964e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 1.9652e1

MQRankSum
type: SiteQuality
SIO_000300: -6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65016
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.277791975466394e-4
allele num: 15652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.716e-1

FS
type: SiteQuality
SIO_000300: 8.878e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

DP
type: SiteQuality
SIO_000300: 1.505102e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1258
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15254
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.078722945722114e-5
allele num: 64962
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 9.17e0

DP
type: SiteQuality
SIO_000300: 1.497276e6

QD
type: SiteQuality
SIO_000300: 1.394e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.560818790185015e-5
allele num: 15242
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.038e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

DP
type: SiteQuality
SIO_000300: 1.498793e6

QD
type: SiteQuality
SIO_000300: 1.137e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46743
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538698261270965e-5
allele num: 64990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.498793e6

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

FS
type: SiteQuality
SIO_000300: 2.038e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.137e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 5960
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540072691431036e-5
allele num: 64932
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 1.022e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

FS
type: SiteQuality
SIO_000300: 2.506e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.49011e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 24

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64940
num of homozygotes: 0

African
type: Population
allele count: 24
allele frequency: 2.501563477173233e-3
allele num: 9594
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.731e0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.484748e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080335140463283e-5
allele num: 64928
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.244e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 1.483833e6

FS
type: SiteQuality
SIO_000300: 4.918e0

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 19
allele frequency: 1.981230448383733e-3
allele num: 9590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64862
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14214
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.740644038294169e-4
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.209e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

DP
type: SiteQuality
SIO_000300: 1.480156e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 257
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GenotypeQuality
all individuals: 1039
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9586
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542353013757789e-5
allele num: 64836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.848e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.477464e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 3631
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45985
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.630201259414742e-4
allele num: 64792
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.430819859779654e-3
allele num: 13978
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 1.476477e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.254e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 9.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

GenotypeQuality
all individuals: 416
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545403968597391e-5
allele num: 64708
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.405e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

FS
type: SiteQuality
SIO_000300: 8.920999999999999e0

DP
type: SiteQuality
SIO_000300: 1.470044e6

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.32493407559332e-5
allele num: 13652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.405e-1

DP
type: SiteQuality
SIO_000300: 1.470044e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 7.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 8.920999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

GenotypeQuality
all individuals: 1204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.505253677574302e-5
allele num: 13324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.464946e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 1.696e0

QD
type: SiteQuality
SIO_000300: 1.05e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 9.75e1
variant carriers: 84

GenotypeQuality
all individuals: 990
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 1

South Asian
type: Population
allele count: 83
allele frequency: 6.61670918367347e-3
allele num: 12544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.268e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

DP
type: SiteQuality
SIO_000300: 1.456051e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 5425
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.164256557921716e-5
allele num: 63206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.057e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

FS
type: SiteQuality
SIO_000300: 1.818e0

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

DP
type: SiteQuality
SIO_000300: 1.419678e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 367
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5410
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581928053912108e-5
allele num: 63214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.419096e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

QD
type: SiteQuality
SIO_000300: 2.72e1

VQSLOD
type: SiteQuality
SIO_000300: -2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.422e0

FS
type: SiteQuality
SIO_000300: 3.402e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181753722524226e-4
allele num: 8462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.763e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 1.0054e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.392399e6

QD
type: SiteQuality
SIO_000300: 8.49e0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 354
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635429954535047e-5
allele num: 61146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.71e0

DP
type: SiteQuality
SIO_000300: 1.32465e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 6.043e1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

FS
type: SiteQuality
SIO_000300: 2.671e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 668
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37256
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.638538423726036e-5
allele num: 61030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.094e0

QD
type: SiteQuality
SIO_000300: 1.785e1

DP
type: SiteQuality
SIO_000300: 1.318353e6

MQRankSum
type: SiteQuality
SIO_000300: -1.728e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

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

GenotypeQuality
all individuals: 851
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.319467554076539e-4
allele num: 10818
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657055743355207e-5
allele num: 60348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.282986e6

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.187809678952013e-4
allele num: 58932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3878e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.711e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

QD
type: SiteQuality
SIO_000300: 1.777e1

DP
type: SiteQuality
SIO_000300: 1.197831e6

GenotypeQuality
all individuals: 692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3876
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10659
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30892
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.213886865744113e-4
allele num: 8238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.197528e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.069e0

GenotypeQuality
all individuals: 313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 784
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11713
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.712035610340695e-5
allele num: 58410
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 1.166992e6

QD
type: SiteQuality
SIO_000300: 1.839e1

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.730822486845749e-5
allele num: 57776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 3.174e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.626e0

DP
type: SiteQuality
SIO_000300: 1.121185e6

VQSLOD
type: SiteQuality
SIO_000300: -1.301e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.507e1

GenotypeQuality
all individuals: 4019
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.514567883878677e-5
allele num: 56906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.146e1

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 4.004e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.606e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

DP
type: SiteQuality
SIO_000300: 1.069849e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21906
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.757283941939339e-5
allele num: 56906
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.004e0

DP
type: SiteQuality
SIO_000300: 1.069849e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.606e0

GenotypeQuality
all individuals: 697
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.211240310077519e-4
allele num: 8256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.099e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.914e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.162e0

VQSLOD
type: SiteQuality
SIO_000300: -1.538e0

FS
type: SiteQuality
SIO_000300: 3.565e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 9.67933e5

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55318
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.763194252555955e-4
allele num: 7238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.214e1

FS
type: SiteQuality
SIO_000300: 4.279e0

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 9.58971e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.002e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 2403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.001066951186983e-4
allele num: 7498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.188e0

FS
type: SiteQuality
SIO_000300: 2.978e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 9.4263e5

QD
type: SiteQuality
SIO_000300: 1.508e1

GenotypeQuality
all individuals: 5442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7115
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.238543472875898e-4
allele num: 8074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.696311081540623e-5
allele num: 54108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7350
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

QD
type: SiteQuality
SIO_000300: 1.493e1

DP
type: SiteQuality
SIO_000300: 9.01206e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: -7.340000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.588e0

GenotypeQuality
all individuals: 4005
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12612
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5690
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.501501501501501e-3
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.850892130006663e-5
allele num: 54028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.554e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 8.99857e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

FS
type: SiteQuality
SIO_000300: 5.344e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6035
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.508566275924256e-4
allele num: 6654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.183e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.92837e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

GenotypeQuality
all individuals: 1861
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35159
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

DP
type: SiteQuality
SIO_000300: 1.65563e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 9.17e0

GenotypeQuality
all individuals: 3457
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.330504070673827e-4
allele num: 11546
num of homozygotes: 0

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

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

African
type: Population
allele count: 34
allele frequency: 3.302894890227317e-3
allele num: 10294
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.216e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.565e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.736351e6

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

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

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7018
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006433768264085e-5
allele num: 66524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 1.846e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.396e1

DP
type: SiteQuality
SIO_000300: 1.734785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.891e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
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: 11548
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 1.012e0

QD
type: SiteQuality
SIO_000300: 1.529e1

DP
type: SiteQuality
SIO_000300: 1.734076e6

GenotypeQuality
all individuals: 1451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3422
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007157033740302e-5
allele num: 66508
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.21e-1

FS
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.734072e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.01e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 6998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 6.907e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 1.733613e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.929e-1

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 8.811999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

QD
type: SiteQuality
SIO_000300: 8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.738727e6

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
all individuals: 6967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.114e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.732518e6

MQ
type: SiteQuality
SIO_000300: 5.859e1

VQSLOD
type: SiteQuality
SIO_000300: -2.027e0

FS
type: SiteQuality
SIO_000300: 1.0641e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44831
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.732155e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.127e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
all individuals: 3430
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 527
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GenotypeQuality
all individuals: 346
bin: 8.75e1
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GenotypeQuality
all individuals: 44831
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.963788300835655e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.973554371422933e-4
allele num: 10134
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.355544175678525e-4
allele num: 66394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.732155e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.127e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.895111814763506e-5
allele num: 10106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-1

FS
type: SiteQuality
SIO_000300: 2.724e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

DP
type: SiteQuality
SIO_000300: 1.730931e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.547625517012348e-5
allele num: 66246
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10044
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: 902
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.299e1

FS
type: SiteQuality
SIO_000300: 8.135e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 1.726827e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.549e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 2.002002002002002e-4
allele num: 9990
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.474e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.887e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele count: 1
allele frequency: 1.015228426395939e-4
allele num: 9850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65824
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.111722283339445e-5
allele num: 16362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.022e0

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e0

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 1.713843e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.021e0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.077207126811705e-5
allele num: 64994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

DP
type: SiteQuality
SIO_000300: 1.686177e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.108003108003108e-5
allele num: 64350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.657679e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.097315436241611e-4
allele num: 9536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.802865151043289e-4
allele num: 64220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 1.653e6

QD
type: SiteQuality
SIO_000300: 1.118e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.192717364379489e-5
allele num: 16148
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.208021261174197e-4
allele num: 8278
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 1.653e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Other
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East Asian
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Latino
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allele frequency: 1.763357432551578e-4
allele num: 11342
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55714730613516e-5
allele num: 64220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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East Asian
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African
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allele frequency: 2.120441051738762e-4
allele num: 9432
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63644
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South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

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

East Asian
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allele count: 1
allele frequency: 1.231223836493475e-4
allele num: 8122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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South Asian
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African
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allele frequency: 2.124946876328092e-4
allele num: 9412
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European (Non-Finnish)
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allele count: 18
allele frequency: 2.835360090731523e-4
allele num: 63484
num of homozygotes: 0

Latino
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allele frequency: 6.20677425075368e-4
allele num: 11278
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593777891113094e-5
allele num: 62744
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European (Finnish)
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East Asian
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South Asian
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Other
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Latino
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African
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FS
type: SiteQuality
SIO_000300: 4.68e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.857e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 1.505783e6

GenotypeQuality
all individuals: 2283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26702
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.07781849536538e-4
allele num: 9278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.048e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.31e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.50511e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
all individuals: 1252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9620
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3722
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.954154727793696e-5
allele num: 11168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62046
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

QD
type: SiteQuality
SIO_000300: 1.454e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

DP
type: SiteQuality
SIO_000300: 1.438254e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.626016260162601e-5
allele num: 61500
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.79e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.244e0

DP
type: SiteQuality
SIO_000300: 1.402134e6

QD
type: SiteQuality
SIO_000300: 1.095e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.639e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3396
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 824
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variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.225092250922509e-5
allele num: 10840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709577050637672e-5
allele num: 58494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

DP
type: SiteQuality
SIO_000300: 1.309578e6

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.175e1

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e0

FS
type: SiteQuality
SIO_000300: 6.458e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 3.607901e6

QD
type: SiteQuality
SIO_000300: 1.42e1

VQSLOD
type: SiteQuality
SIO_000300: -6.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.273e0

GenotypeQuality
all individuals: 2665
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2561
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2878
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 968
allele frequency: 1.451709658068386e-2
allele num: 66680
num of homozygotes: 12

Latino
type: Population
allele count: 104
allele frequency: 8.98255311798238e-3
allele num: 11578
num of homozygotes: 2

South Asian
type: Population
allele count: 957
allele frequency: 5.814801312431644e-2
allele num: 16458
num of homozygotes: 44

African
type: Population
allele count: 490
allele frequency: 4.708821833557563e-2
allele num: 10406
num of homozygotes: 11

East Asian
type: Population
allele count: 317
allele frequency: 3.664739884393064e-2
allele num: 8650
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 135
allele frequency: 2.041124886604173e-2
allele num: 6614
num of homozygotes: 2

Other
type: Population
allele count: 21
allele frequency: 2.312775330396476e-2
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.633514e6

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.555e0

VQSLOD
type: SiteQuality
SIO_000300: 6.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820830298616169e-4
allele num: 16476
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

DP
type: SiteQuality
SIO_000300: 3.352313e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

FS
type: SiteQuality
SIO_000300: 8.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

QD
type: SiteQuality
SIO_000300: 1.122e1

MQ
type: SiteQuality
SIO_000300: 5.941e1

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

GenotypeQuality
all individuals: 1477
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.851e0

FS
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.234e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.353558e6

QD
type: SiteQuality
SIO_000300: 1.64e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6941
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.148331384366286e-4
allele num: 66702
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: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.482e0

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 3.357226e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.747e0

FS
type: SiteQuality
SIO_000300: 6.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.246e0

MQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 3.353602e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

GenotypeQuality
all individuals: 1474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.309e0

FS
type: SiteQuality
SIO_000300: 2.512e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 3.354159e6

VQSLOD
type: SiteQuality
SIO_000300: -8.881e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38557
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1557
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 2.512e0

DP
type: SiteQuality
SIO_000300: 3.354159e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.309e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.881e-1

GenotypeQuality
all individuals: 38555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

DP
type: SiteQuality
SIO_000300: 3.354012e6

QD
type: SiteQuality
SIO_000300: 1.426e1

MQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.248e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.166e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQ
type: SiteQuality
SIO_000300: 5.842e1