17-73208178-CGCGCGTGTGTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208166
    reference: chr 17
allele count: 829
allele frequency: 7.194931435514668e-2
allele num: 11522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 4
num of homozygotes: 35
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: CGCGCGTGTGTGT
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-73208178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208178
    reference: chr 17
allele count: 5
allele frequency: 4.339524388127062e-4
allele num: 11522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+21C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+21C>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-73208178-CGCGCGTGTGTGTGTGTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208178
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208160
    reference: chr 17
allele count: 8
allele frequency: 6.943239021003298e-4
allele num: 11522
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62
  num of homozygotes: 0
population: African
  type: Population
  allele count: 8
  allele frequency: 2.351557907113463e-3
  allele num: 3402
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5810
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 256
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
reference allele: CGCGCGTGTGTGTGTGTGT
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-73208179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208179
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208179
    reference: chr 17
allele count: 102
allele frequency: 8.239095315024232e-3
allele num: 12380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+22G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+22G>A
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 3
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-73208179-G-GCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208179
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208181
    reference: chr 17
allele count: 1
allele frequency: 8.077544426494346e-5
allele num: 12380
alternate allele: GCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+23_223+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+23_361+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+23_393+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+23_320+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+23_295+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+23_361+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+23_-22+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+23_403+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+23_433+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+23_25+24insAC
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+23_361+24insAC
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-73208180-C-CGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208182
    reference: chr 17
allele count: 80
allele frequency: 2.245929253228523e-3
allele num: 35620
alternate allele: CGT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+24_361+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+24_393+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+24_403+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+24_25+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+24_361+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+24_361+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+24_-22+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+24_433+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+24_295+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+24_320+25insTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+24_223+25insTG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 1.75e1
  variant carriers: 11
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-73208180-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
allele count: 57
allele frequency: 1.600224592925323e-3
allele num: 35620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+23C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+23C>G
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 1
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-73208180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
allele count: 8
allele frequency: 2.245929253228523e-4
allele num: 35620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+23C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+23C>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-73208180-CGCGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208176
    reference: chr 17
allele count: 7
allele frequency: 1.965188096574958e-4
allele num: 35620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+25_361+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+25_320+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+25_361+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+25_361+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+25_393+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+25_433+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+25_223+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+25_25+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+25_295+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+25_403+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+25_-22+28delCGTG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: CGCGT
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-73208180-CGCGTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208174
    reference: chr 17
allele count: 36
allele frequency: 1.010668163952835e-3
allele num: 35620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+25_-22+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+25_320+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+25_403+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+25_223+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+25_433+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+25_361+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+25_295+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+25_25+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+25_361+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+25_361+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+25_393+30delCGTGTG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13115
  bin: 2.5e0
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: CGCGTGT
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-73208180-CGCGTGTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208172
    reference: chr 17
allele count: 7
allele frequency: 1.965188096574958e-4
allele num: 35620
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.133105802047782e-4
  allele num: 4688
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 4.516711833785004e-4
  allele num: 2214
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1328
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1828
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: CGCGTGTGT
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-73208181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208181
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 23604
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+24G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+24G>A
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

17-73208182-C-CGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208184
    reference: chr 17
allele count: 109
allele frequency: 1.631736526946108e-3
allele num: 66800
alternate allele: CGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+47_25+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+47_320+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+47_403+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+47_361+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+47_433+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+47_-22+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+47_361+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+47_361+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+47_295+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+47_393+48dupTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+47_223+48dupTG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 15015
  bin: 7.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 1.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 15155
  bin: 9.75e1
  variant carriers: 91
num of homozygotes: 1
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

17-73208182-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208182
    reference: chr 17
allele count: 46159
allele frequency: 6.910029940119761e-1
allele num: 66800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+25C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+25C>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 1753
genotype depth: GenotypeDepth
  all individuals: 15015
  bin: 7.5e0
  variant carriers: 13657
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 1.25e1
  variant carriers: 13757
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 3345
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 1453
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 515
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 1977
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 1.75e1
  variant carriers: 6972
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 716
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 999
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 1213
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 498
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 165
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 1517
num of homozygotes: 15884
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

17-73208182-CGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208180
    reference: chr 17
allele count: 1926
allele frequency: 2.883233532934132e-2
allele num: 66800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+47_403+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+47_393+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+47_320+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+47_433+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+47_25+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+47_361+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+47_223+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+47_361+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+47_-22+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+47_361+48delTG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+47_295+48delTG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 1.25e1
  variant carriers: 770
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15015
  bin: 7.5e0
  variant carriers: 700
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 1.75e1
  variant carriers: 312
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 1.25e1
  variant carriers: 26
num of homozygotes: 58
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: CGT
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

17-73208182-CGTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208178
    reference: chr 17
allele count: 41
allele frequency: 6.137724550898204e-4
allele num: 66800
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15015
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15155
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4658
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3238
  num of homozygotes: 0
population: African
  type: Population
  allele count: 12
  allele frequency: 1.953760989905568e-3
  allele num: 6142
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 37046
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
reference allele: CGTGT
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

17-73208182-CGTGTGTGTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208172
    reference: chr 17
allele count: 6
allele frequency: 8.982035928143712e-5
allele num: 66800
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15015
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15155
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 5
  allele frequency: 8.140670791273201e-4
  allele num: 6142
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 2.1468441391155e-4
  allele num: 4658
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 37046
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 548
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: CGTGTGTGTGT
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-73208182-CGTGTGTGTGTGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208170
    reference: chr 17
allele count: 13
allele frequency: 1.946107784431138e-4
allele num: 66800
alternate allele: C
canonical: false
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15015
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15155
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3238
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10900
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 548
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 2.1468441391155e-4
  allele num: 4658
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: CGTGTGTGTGTGT
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-73208183-G-GCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208183
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208185
    reference: chr 17
allele count: 2
allele frequency: 2.089864158829676e-4
allele num: 9570
alternate allele: GCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+26_295+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+26_223+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+26_320+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+26_361+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+26_-22+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+26_361+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+26_403+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+26_25+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+26_433+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+26_393+27insCA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+26_361+27insCA
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-73208183-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208183
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208185
    reference: chr 17
allele count: 1
allele frequency: 1.044932079414838e-4
allele num: 9570
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+27_25+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+27_361+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+27_361+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+27_403+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+27_-22+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+27_433+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+27_223+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+27_393+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+27_295+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+27_320+28insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+27_361+28insTT
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

17-73208184-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208184
    reference: chr 17
allele count: 4742
allele frequency: 3.877984952567877e-1
allele num: 12228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+27T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+27T>C
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.25e1
  variant carriers: 603
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 1.75e1
  variant carriers: 1279
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 1.25e1
  variant carriers: 1620
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 7.5e0
  variant carriers: 1048
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 133
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 98
num of homozygotes: 134
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-73208184-T-TGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208186
    reference: chr 17
allele count: 11
allele frequency: 8.995747464834805e-4
allele num: 12228
alternate allele: TGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+28_393+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+28_361+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+28_403+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+28_295+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+28_361+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+28_320+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+28_361+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+28_223+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+28_-22+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+28_433+29insCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+28_25+29insCG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

17-73208184-T-TGCGCGCGCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208194
    reference: chr 17
allele count: 2
allele frequency: 1.635590448151783e-4
allele num: 12228
alternate allele: TGCGCGCGCGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-73208185-G-GTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208185
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208187
    reference: chr 17
allele count: 1
allele frequency: 7.582650894752806e-5
allele num: 13188
alternate allele: GTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+29_320+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+29_223+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+29_361+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+29_25+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+29_361+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+29_403+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+29_295+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+29_433+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+29_-22+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+29_361+30insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+29_393+30insAT
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

17-73208186-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208186
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208186
    reference: chr 17
allele count: 2421
allele frequency: 1.729038708755892e-1
allele num: 14002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+29T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+29T>C
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 1.75e1
  variant carriers: 523
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 7.5e0
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 1.25e1
  variant carriers: 812
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 2.25e1
  variant carriers: 52
num of homozygotes: 53
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-73208186-T-TGCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208186
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208190
    reference: chr 17
allele count: 5
allele frequency: 3.570918440222825e-4
allele num: 14002
alternate allele: TGCGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+30_295+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+30_403+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+30_433+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+30_361+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+30_361+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+30_361+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+30_25+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+30_-22+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+30_320+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+30_223+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+30_393+31insCGCG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-73208188-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208188
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208188
    reference: chr 17
allele count: 55
allele frequency: 3.256750355281857e-3
allele num: 16888
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+31T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+31T>C
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-73208189-G-GTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208189
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208191
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 17938
alternate allele: GTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+33_393+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+33_320+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+33_361+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+33_361+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+33_-22+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+33_223+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+33_403+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+33_25+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+33_361+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+33_433+34insAT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+33_295+34insAT
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-73208190-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208190
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208190
    reference: chr 17
allele count: 1
allele frequency: 5.601613264620211e-5
allele num: 17852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+33T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+33T>C
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

17-73208196-T-TGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208198
    reference: chr 17
allele count: 1
allele frequency: 5.456132693147097e-5
allele num: 18328
alternate allele: TGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+40_223+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+40_361+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+40_361+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+40_393+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+40_25+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+40_-22+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+40_295+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+40_433+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+40_403+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+40_361+41insGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+40_320+41insGG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

17-73208196-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208195
    reference: chr 17
allele count: 3
allele frequency: 1.636839807944129e-4
allele num: 18328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+40delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+40delG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: TG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

17-73208198-TGTGTGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208198
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208191
    reference: chr 17
allele count: 3
allele frequency: 1.811375437749064e-4
allele num: 16562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+43_295+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+43_433+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+43_361+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+43_320+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+43_223+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+43_25+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+43_361+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+43_361+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+43_-22+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+43_403+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+43_393+49delTGTGTGG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: TGTGTGTG
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

17-73208200-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208200
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208199
    reference: chr 17
allele count: 9
allele frequency: 5.781832198381087e-4
allele num: 15566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+44delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+44delG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: TG
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-73208201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208201
    reference: chr 17
allele count: 2
allele frequency: 1.32520540683806e-4
allele num: 15092
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+44G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+44G>A
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-73208202-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208201
    reference: chr 17
allele count: 81
allele frequency: 4.348292892420013e-3
allele num: 18628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+46delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+46delG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: TG
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-73208202-TGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208199
    reference: chr 17
allele count: 9
allele frequency: 4.831436547133348e-4
allele num: 18628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+47_393+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+47_320+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+47_295+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+47_223+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+47_-22+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+47_361+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+47_25+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+47_361+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+47_361+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+47_403+49delTGG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+47_433+49delTGG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: TGTG
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-73208204-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208203
    reference: chr 17
allele count: 75
allele frequency: 4.619933472957989e-3
allele num: 16234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+50delG
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+50delG
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.75e1
  variant carriers: 3
num of homozygotes: 1
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: TG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-73208205-G-GTGTGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208211
    reference: chr 17
allele count: 2190
allele frequency: 3.776513191929643e-2
allele num: 57990
alternate allele: GTGTGTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+48_295+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+48_393+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+48_403+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+48_361+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+48_25+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+48_361+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+48_433+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+48_223+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+48_-22+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+48_361+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+48_320+49insTGTGTT
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 1.75e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 1.25e1
  variant carriers: 979
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 7.5e0
  variant carriers: 1201
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.25e1
  variant carriers: 49
num of homozygotes: 66
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-73208205-G-GTGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208209
    reference: chr 17
allele count: 29958
allele frequency: 5.166063114330057e-1
allele num: 57990
alternate allele: GTGTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+48_403+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+48_223+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+48_295+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+48_433+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+48_393+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+48_361+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+48_361+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+48_25+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+48_-22+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+48_361+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+48_320+49insTGTT
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 1712
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 1.25e1
  variant carriers: 13862
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 2087
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 7.5e0
  variant carriers: 17155
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 1953
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 1.75e1
  variant carriers: 4397
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 1487
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 719
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 1114
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 248
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 1018
num of homozygotes: 5060
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

17-73208205-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208207
    reference: chr 17
allele count: 11074
allele frequency: 1.909639593033282e-1
allele num: 57990
alternate allele: GTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+48_25+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+48_223+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+48_393+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+48_-22+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+48_403+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+48_361+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+48_433+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+48_361+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+48_361+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+48_320+49insTT
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+48_295+49insTT
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 1.25e1
  variant carriers: 5025
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 982
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 649
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 7.5e0
  variant carriers: 4942
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 837
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 507
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 1.75e1
  variant carriers: 1880
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 938
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.25e1
  variant carriers: 782
num of homozygotes: 52
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

17-73208205-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208205
    reference: chr 17
allele count: 11086
allele frequency: 1.911708915330229e-1
allele num: 57990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+48G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+48G>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 894
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 541
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 1.25e1
  variant carriers: 5239
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 7.5e0
  variant carriers: 5293
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 698
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 468
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 1.75e1
  variant carriers: 1839
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 366
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 296
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 2.5e0
  variant carriers: 1332
num of homozygotes: 1608
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

17-73208205-G-GTGTGTGTGTGTGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208219
    reference: chr 17
allele count: 46
allele frequency: 7.932402138299707e-4
allele num: 57990
alternate allele: GTGTGTGTGTGTGTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-73208205-G-GTGTGTGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208205
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208213
    reference: chr 17
allele count: 123
allele frequency: 2.121055354371443e-3
allele num: 57990
alternate allele: GTGTGTGTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16681
  bin: 1.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 21984
  bin: 7.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.5e0
  variant carriers: 7
num of homozygotes: 3
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

17-73208206-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208206
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208206
    reference: chr 17
allele count: 112
allele frequency: 4.782237403928266e-2
allele num: 2342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+49G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+49G>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: InbreedingCoeff_Filter
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 7.5e0
  variant carriers: 366
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 2.5e0
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 30
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

17-73208208-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208207
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 43722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+52delA
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+52delA
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: TA
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

17-73208209-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73208209
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73208209
    reference: chr 17
allele count: 92
allele frequency: 3.021148036253776e-3
allele num: 30452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.403+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.295+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.361+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.433+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.223+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.393+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.320+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.25+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-22+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.361+52A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.361+52A>G
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16623
  bin: 1.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 7.5e0
  variant carriers: 348
genotype depth: GenotypeDepth
  all individuals: 8653
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.5e0
  variant carriers: 491
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 37
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

17-73209120-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209120
    reference: chr 17
allele count: 2
allele frequency: 2.388002674562995e-5
allele num: 83752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.26-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.404-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.434-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.296-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-21-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.224-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.362-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.321-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.362-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.394-51A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.362-51A>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19494
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16647
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-73209125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209125
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209125
    reference: chr 17
allele count: 35
allele frequency: 4.184800803481754e-4
allele num: 83636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.404-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-21-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.296-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.321-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.434-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.394-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.362-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.224-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.362-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.26-46G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.362-46G>A
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19490
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-73209128-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209128
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209128
    reference: chr 17
allele count: 1
allele frequency: 1.188212927756654e-5
allele num: 84160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.224-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.26-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.404-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.321-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.362-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.394-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.362-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-21-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.434-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.362-43T>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.296-43T>G
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19441
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16668
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-73209136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209136
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209136
    reference: chr 17
allele count: 1
allele frequency: 1.177079900183625e-5
allele num: 84956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.362-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.404-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.321-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.362-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.434-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.394-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.26-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.224-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.296-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.362-35C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-21-35C>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16692
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16440
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

17-73209154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209154
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209154
    reference: chr 17
allele count: 1
allele frequency: 1.106586402266289e-5
allele num: 90368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.224-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.296-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.394-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.26-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.404-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.434-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.321-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-21-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.362-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.362-17G>A
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.362-17G>A
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-73209159-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209159
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209159
    reference: chr 17
allele count: 1
allele frequency: 1.078981441519206e-5
allele num: 92680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.434-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-21-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.394-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.404-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.362-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.362-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.321-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.224-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.296-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.26-12G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.362-12G>C
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20496
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-73209168-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209168
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209168
    reference: chr 17
allele count: 1
allele frequency: 1.016363451570281e-5
allele num: 98390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.404-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.434-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.394-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.26-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.362-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.362-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.224-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.321-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.362-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.296-3T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-21-3T>C
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.362-3T>C
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-73209169-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209169
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209169
    reference: chr 17
allele count: 4
allele frequency: 4.039506372321302e-5
allele num: 99022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.224-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.26-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.362-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.362-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.321-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.404-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.362-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.394-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.434-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.296-2A>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-21-2A>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27169
  bin: 6.25e1
  variant carriers: 0
hgvs: c.362-2A>T
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

17-73209174-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209174
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209174
    reference: chr 17
allele count: 1
allele frequency: 9.825112988799371e-6
allele num: 101780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.365C>T
  hgvsp: ENSP00000462749.1:p.Ala122Val
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.227C>T
  hgvsp: ENSP00000441762.1:p.Ala76Val
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.299C>T
  hgvsp: ENSP00000462487.1:p.Ala100Val
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.365C>T
  hgvsp: ENSP00000461919.1:p.Ala122Val
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.365C>T
  hgvsp: ENSP00000245544.4:p.Ala122Val
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.407C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.29C>T
  hgvsp: ENSP00000463382.1:p.Ala10Val
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.397C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.324C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-18C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.437C>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala122Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-73209176-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209176
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209176
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 102968
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.229G>T
  hgvsp: ENSP00000441762.1:p.Ala77Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.399G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.326G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.367G>T
  hgvsp: ENSP00000462749.1:p.Ala123Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.439G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.31G>T
  hgvsp: ENSP00000463382.1:p.Ala11Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.367G>T
  hgvsp: ENSP00000245544.4:p.Ala123Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.367G>T
  hgvsp: ENSP00000461919.1:p.Ala123Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.409G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.301G>T
  hgvsp: ENSP00000462487.1:p.Ala101Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-16G>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30018
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala123Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-73209177-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209177
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209177
    reference: chr 17
allele count: 1
allele frequency: 9.6575435072335e-6
allele num: 103546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.302C>G
  hgvsp: ENSP00000462487.1:p.Ala101Gly
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.368C>G
  hgvsp: ENSP00000461919.1:p.Ala123Gly
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.440C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.327C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.32C>G
  hgvsp: ENSP00000463382.1:p.Ala11Gly
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.410C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.368C>G
  hgvsp: ENSP00000462749.1:p.Ala123Gly
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.368C>G
  hgvsp: ENSP00000245544.4:p.Ala123Gly
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.230C>G
  hgvsp: ENSP00000441762.1:p.Ala77Gly
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.400C>G
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala123Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-73209179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209179
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209179
    reference: chr 17
allele count: 4
allele frequency: 3.824749956971563e-5
allele num: 104582
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.370A>G
  hgvsp: ENSP00000245544.4:p.Lys124Glu
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.34A>G
  hgvsp: ENSP00000463382.1:p.Lys12Glu
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.304A>G
  hgvsp: ENSP00000462487.1:p.Lys102Glu
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.232A>G
  hgvsp: ENSP00000441762.1:p.Lys78Glu
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-13A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.370A>G
  hgvsp: ENSP00000462749.1:p.Lys124Glu
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.329A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.402A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.442A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.370A>G
  hgvsp: ENSP00000461919.1:p.Lys124Glu
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.412A>G
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys124Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-73209184-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209184
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209184
    reference: chr 17
allele count: 6
allele frequency: 5.679989397353125e-5
allele num: 105634
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.447T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.375T>C
  hgvsp: ENST00000579298.1:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.237T>C
  hgvsp: ENST00000541827.1:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.334T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.309T>C
  hgvsp: ENST00000583569.1:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.39T>C
  hgvsp: ENST00000579324.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.417T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.375T>C
  hgvsp: ENST00000581104.1:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.407T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.375T>C
  hgvsp: ENST00000245544.4:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp125Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

17-73209185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209185
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209185
    reference: chr 17
allele count: 288
allele frequency: 2.703413058986971e-3
allele num: 106532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.376C>T
  hgvsp: ENSP00000461919.1:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.238C>T
  hgvsp: ENSP00000441762.1:p.Pro80Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.376C>T
  hgvsp: ENSP00000245544.4:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.418C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.408C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.448C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.376C>T
  hgvsp: ENSP00000462749.1:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.40C>T
  hgvsp: ENSP00000463382.1:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.310C>T
  hgvsp: ENSP00000462487.1:p.Pro104Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.335C>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31832
  bin: 2.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
hgvs: p.Pro126Ser
num of homozygotes: 2
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-73209192-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209192
    reference: chr 17
allele count: 7
allele frequency: 6.483762805431541e-5
allele num: 107962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.245A>G
  hgvsp: ENSP00000441762.1:p.Asn82Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.383A>G
  hgvsp: ENSP00000462749.1:p.Asn128Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.383A>G
  hgvsp: ENSP00000461919.1:p.Asn128Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.425A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.47A>G
  hgvsp: ENSP00000463382.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.1A>G
  hgvsp: ENSP00000408261.2:p.Met1?
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.455A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.383A>G
  hgvsp: ENSP00000245544.4:p.Asn128Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.317A>G
  hgvsp: ENSP00000462487.1:p.Asn106Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.342A>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.415A>G
  variant of: http://identifiers.org/hgnc/8734
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32100
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

17-73209193-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209193
    reference: chr 17
allele count: 1
allele frequency: 9.260116677470136e-6
allele num: 107990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.384T>C
  hgvsp: ENST00000245544.4:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.318T>C
  hgvsp: ENST00000583569.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.384T>C
  hgvsp: ENST00000581104.1:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.48T>C
  hgvsp: ENST00000579324.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.343T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.416T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.384T>C
  hgvsp: ENST00000579298.1:c.384T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.2T>C
  hgvsp: ENSP00000408261.2:p.Met1?
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.246T>C
  hgvsp: ENST00000541827.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.456T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.426T>C
  variant of: http://identifiers.org/hgnc/8734
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

17-73209198-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209198
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209198
    reference: chr 17
allele count: 1
allele frequency: 9.228156952493447e-6
allele num: 108364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.251G>C
  hgvsp: ENSP00000441762.1:p.Arg84Pro
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.348G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.421G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.53G>C
  hgvsp: ENSP00000463382.1:p.Arg18Pro
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.389G>C
  hgvsp: ENSP00000461919.1:p.Arg130Pro
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.461G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.389G>C
  hgvsp: ENSP00000462749.1:p.Arg130Pro
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.389G>C
  hgvsp: ENSP00000245544.4:p.Arg130Pro
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.431G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.323G>C
  hgvsp: ENSP00000462487.1:p.Arg108Pro
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.7G>C
  hgvsp: ENSP00000408261.2:p.Ala3Pro
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg130Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

17-73209199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209199
    reference: chr 17
allele count: 1
allele frequency: 9.207933555551464e-6
allele num: 108602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.390C>T
  hgvsp: ENST00000581104.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.252C>T
  hgvsp: ENST00000541827.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.390C>T
  hgvsp: ENST00000245544.4:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.324C>T
  hgvsp: ENST00000583569.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.54C>T
  hgvsp: ENST00000579324.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.8C>T
  hgvsp: ENSP00000408261.2:p.Ala3Val
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.390C>T
  hgvsp: ENST00000579298.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.422C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.432C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.462C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.349C>T
  variant of: http://identifiers.org/hgnc/8734
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala3Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

17-73209204-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209204
    reference: chr 17
allele count: 1
allele frequency: 9.181218898620981e-6
allele num: 108918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.257T>C
  hgvsp: ENSP00000441762.1:p.Phe86Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.395T>C
  hgvsp: ENSP00000461919.1:p.Phe132Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.395T>C
  hgvsp: ENSP00000462749.1:p.Phe132Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.59T>C
  hgvsp: ENSP00000463382.1:p.Phe20Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.467T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.395T>C
  hgvsp: ENSP00000245544.4:p.Phe132Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.437T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.329T>C
  hgvsp: ENSP00000462487.1:p.Phe110Ser
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.13T>C
  hgvsp: ENSP00000408261.2:p.Ser5Pro
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.427T>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.354T>C
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31311
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe132Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-73209210-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209210
    reference: chr 17
allele count: 1
allele frequency: 9.196417075907227e-6
allele num: 108738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.473G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.401G>C
  hgvsp: ENSP00000245544.4:p.Ser134Thr
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.19G>C
  hgvsp: ENSP00000408261.2:p.Ala7Pro
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.263G>C
  hgvsp: ENSP00000441762.1:p.Ser88Thr
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.401G>C
  hgvsp: ENSP00000461919.1:p.Ser134Thr
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.433G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.65G>C
  hgvsp: ENSP00000463382.1:p.Ser22Thr
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.335G>C
  hgvsp: ENSP00000462487.1:p.Ser112Thr
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.401G>C
  hgvsp: ENSP00000462749.1:p.Ser134Thr
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.360G>C
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.443G>C
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser134Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-73209220-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209220
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209220
    reference: chr 17
allele count: 3469
allele frequency: 3.184380106115405e-2
allele num: 108938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.405+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.405+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.69+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.23+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.447+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.405+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.437+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.364+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.339+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.267+6G>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.477+6G>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 7.5e0
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 1.25e1
  variant carriers: 391
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.75e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 1.75e1
  variant carriers: 727
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 25770
  bin: 2.25e1
  variant carriers: 821
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 272
genotype quality: GenotypeQuality
hgvs: c.405+6G>T
num of homozygotes: 65
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

17-73209226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209226
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209226
    reference: chr 17
allele count: 2
allele frequency: 1.853877384549786e-5
allele num: 107882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.69+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.477+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.405+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.437+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.267+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.364+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.405+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.339+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.447+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.405+12C>T
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.23+12C>T
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

17-73209229-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73209229
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 73209229
    reference: chr 17
allele count: 1
allele frequency: 9.304575990472114e-6
allele num: 107474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000449421
  gene symbol: NUP85
  hgvsc: ENST00000449421.2:n.364+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000577208
  gene symbol: NUP85
  hgvsc: ENST00000577208.1:n.447+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000245544
  ensembl transcript: ENST00000245544
  gene symbol: NUP85
  hgvsc: ENST00000245544.4:c.405+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583548
  gene symbol: NUP85
  hgvsc: ENST00000583548.1:n.437+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462749
  ensembl transcript: ENST00000579298
  gene symbol: NUP85
  hgvsc: ENST00000579298.1:c.405+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000461919
  ensembl transcript: ENST00000581104
  gene symbol: NUP85
  hgvsc: ENST00000581104.1:c.405+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000462487
  ensembl transcript: ENST00000583569
  gene symbol: NUP85
  hgvsc: ENST00000583569.1:c.339+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000441762
  ensembl transcript: ENST00000541827
  gene symbol: NUP85
  hgvsc: ENST00000541827.1:c.267+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl transcript: ENST00000583948
  gene symbol: NUP85
  hgvsc: ENST00000583948.1:n.477+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000463382
  ensembl transcript: ENST00000579324
  gene symbol: NUP85
  hgvsc: ENST00000579324.1:c.69+15C>G
  variant of: http://identifiers.org/hgnc/8734
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125450
  ensembl protein: ENSP00000408261
  ensembl transcript: ENST00000447371
  gene symbol: NUP85
  hgvsc: ENST00000447371.2:c.23+15C>G
  variant of: http://identifiers.org/hgnc/8734
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 75
bin: 7.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1357
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2975
bin: 9.75e1
variant carriers: 778

GenotypeQuality
all individuals: 213
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1033
bin: 2.25e1
variant carriers: 8

GenotypeQuality
all individuals: 65
bin: 7.25e1
variant carriers: 10

GenotypeQuality
all individuals: 132
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 440
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 485
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 91
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 2021
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 10

East Asian
type: Population
allele count: 2
allele frequency: 3.225806451612903e-2
allele num: 62
num of homozygotes: 0

African
type: Population
allele count: 739
allele frequency: 2.172251616696061e-1
allele num: 3402
num of homozygotes: 35

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 6.196213425129088e-3
allele num: 5810
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.671071953010279e-3
allele num: 1362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Latino
type: Population
allele count: 40
allele frequency: 7.434944237918216e-2
allele num: 538
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.608695652173914e-2
allele num: 92
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.153e1

FS
type: SiteQuality
SIO_000300: 3.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.561e-1

QD
type: SiteQuality
SIO_000300: 6.62e0

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

DP
type: SiteQuality
SIO_000300: 5.68526e5

MQRankSum
type: SiteQuality
SIO_000300: -1.902e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 91
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2021
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1033
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 342
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.612903225806452e-2
allele num: 62
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.342143906020558e-4
allele num: 1362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.163511187607573e-4
allele num: 5810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3402
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.561e-1

FS
type: SiteQuality
SIO_000300: 3.325e0

MQ
type: SiteQuality
SIO_000300: 5.153e1

DP
type: SiteQuality
SIO_000300: 5.68526e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.902e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 6.62e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1362
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.68526e5

FS
type: SiteQuality
SIO_000300: 3.325e0

MQ
type: SiteQuality
SIO_000300: 5.153e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.561e-1

QD
type: SiteQuality
SIO_000300: 6.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

GenotypeQuality
all individuals: 316
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 145
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6779
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1873
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 596
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 29901
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2000
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 518
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 527
bin: 9.75e1
variant carriers: 81

GenotypeQuality
all individuals: 96
bin: 7.25e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 6.965728615213151e-4
allele num: 7178
num of homozygotes: 0

African
type: Population
allele count: 91
allele frequency: 3.645833333333334e-2
allele num: 2496
num of homozygotes: 1

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

Latino
type: Population
allele count: 3
allele frequency: 5.836575875486381e-3
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.282051282051282e-2
allele num: 234
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.731961e6

MQRankSum
type: SiteQuality
SIO_000300: -1.804e0

QD
type: SiteQuality
SIO_000300: 6.88e0

FS
type: SiteQuality
SIO_000300: 7.228e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.925e-1

MQ
type: SiteQuality
SIO_000300: 5.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.660000000000001e-2

GenotypeQuality
all individuals: 596
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6779
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 201
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29901
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.393861892583121e-4
allele num: 1564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.804e0

MQ
type: SiteQuality
SIO_000300: 5.373e1

VQSLOD
type: SiteQuality
SIO_000300: -8.925e-1

FS
type: SiteQuality
SIO_000300: 7.228e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 6.88e0

DP
type: SiteQuality
SIO_000300: 1.731961e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.660000000000001e-2

GenotypeQuality
all individuals: 1747
bin: 2.75e1
variant carriers: 14

GenotypeQuality
all individuals: 4015
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1925
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 742
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 13115
bin: 2.5e0
variant carriers: 16

GenotypeQuality
all individuals: 362
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10198
bin: 7.5e0
variant carriers: 10

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 5547
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 961
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 919
bin: 4.25e1
variant carriers: 6

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 637
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 882
bin: 5.25e1
variant carriers: 12

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 3.472222222222222e-3
allele num: 4896
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 2.188183807439825e-3
allele num: 1828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.266211604095563e-4
allele num: 4688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.530120481927711e-4
allele num: 1328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 2.746174970576697e-3
allele num: 20392
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.688e1

DP
type: SiteQuality
SIO_000300: 1.673879e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.706e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

GenotypeQuality
all individuals: 1925
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10198
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4015
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 882
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.094091903719912e-3
allele num: 1828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1328
num of homozygotes: 0

South Asian
type: Population
allele count: 55
allele frequency: 1.123366013071895e-2
allele num: 4896
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.688e1

DP
type: SiteQuality
SIO_000300: 1.673879e6

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.706e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

GenotypeQuality
all individuals: 13115
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 882
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10198
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 204
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variant carriers: 1

GenotypeQuality
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1925
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1420
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 1.225490196078431e-3
allele num: 4896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.506024096385542e-3
allele num: 1328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.706e-1

MQ
type: SiteQuality
SIO_000300: 5.688e1

DP
type: SiteQuality
SIO_000300: 1.673879e6

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 395
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variant carriers: 0

GenotypeQuality
all individuals: 5547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10198
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variant carriers: 1

GenotypeQuality
all individuals: 919
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13115
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 4015
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1420
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 1.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.807767752059631e-5
allele num: 20392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1328
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.266211604095563e-4
allele num: 4688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 6.127450980392157e-4
allele num: 4896
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

DP
type: SiteQuality
SIO_000300: 1.673879e6

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.688e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.706e-1

GenotypeQuality
all individuals: 5547
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1747
bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 40

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 3.75e1
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GenotypeQuality
all individuals: 882
bin: 5.25e1
variant carriers: 4

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.516711833785004e-4
allele num: 2214
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 8.532423208191126e-4
allele num: 4688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 1.275009807767752e-3
allele num: 20392
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.470459518599562e-4
allele num: 1828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 2.259036144578313e-3
allele num: 1328
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.64963503649635e-3
allele num: 274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.673879e6

MQ
type: SiteQuality
SIO_000300: 5.688e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.706e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 2.451941938014908e-4
allele num: 20392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4896
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.688e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.673879e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.706e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 1375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 946
bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9078
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4240
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 80
bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

QD
type: SiteQuality
SIO_000300: 7.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.407e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.130000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 6.704e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.564534e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3017
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 760
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3783
bin: 2.5e0
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GenotypeQuality
all individuals: 3411
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
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GenotypeQuality
all individuals: 1657
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4327
bin: 2.75e1
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GenotypeQuality
all individuals: 5138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 710
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variant carriers: 6

GenotypeQuality
all individuals: 1023
bin: 5.25e1
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GenotypeQuality
all individuals: 665
bin: 9.25e1
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GenotypeQuality
all individuals: 2338
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1315
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 724
bin: 6.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.824817518248175e-3
allele num: 548
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.293688278231001e-4
allele num: 4658
num of homozygotes: 0

African
type: Population
allele count: 104
allele frequency: 1.693259524584826e-2
allele num: 6142
num of homozygotes: 1

South Asian
type: Population
allele count: 1
allele frequency: 9.174311926605505e-5
allele num: 10900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.699346758084544e-5
allele num: 37046
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.425e1

DP
type: SiteQuality
SIO_000300: 1.052874e6

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 9.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

QD
type: SiteQuality
SIO_000300: 2.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.703e-1

GenotypeQuality
all individuals: 1315
bin: 4.75e1
variant carriers: 1197

GenotypeQuality
all individuals: 3017
bin: 7.5e0
variant carriers: 2181

GenotypeQuality
all individuals: 771
bin: 6.25e1
variant carriers: 682

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 631

GenotypeQuality
all individuals: 2338
bin: 3.75e1
variant carriers: 2094

GenotypeQuality
all individuals: 710
bin: 8.25e1
variant carriers: 654

GenotypeQuality
all individuals: 4327
bin: 2.75e1
variant carriers: 3970

GenotypeQuality
all individuals: 5138
bin: 2.25e1
variant carriers: 4406

GenotypeQuality
all individuals: 760
bin: 5.75e1
variant carriers: 708

GenotypeQuality
all individuals: 3411
bin: 3.25e1
variant carriers: 2976

GenotypeQuality
all individuals: 5216
bin: 1.75e1
variant carriers: 4759

GenotypeQuality
all individuals: 3783
bin: 2.5e0
variant carriers: 1299

GenotypeQuality
all individuals: 4172
bin: 1.25e1
variant carriers: 3717

GenotypeQuality
all individuals: 702
bin: 7.25e1
variant carriers: 647

GenotypeQuality
all individuals: 674
bin: 7.75e1
variant carriers: 608

GenotypeQuality
all individuals: 15155
bin: 9.75e1
variant carriers: 14109

GenotypeQuality
all individuals: 1023
bin: 5.25e1
variant carriers: 923

GenotypeQuality
all individuals: 665
bin: 9.25e1
variant carriers: 612

GenotypeQuality
all individuals: 724
bin: 6.75e1
variant carriers: 625

African
type: Population
allele count: 2391
allele frequency: 3.892868772386845e-1
allele num: 6142
num of homozygotes: 407

South Asian
type: Population
allele count: 8368
allele frequency: 7.677064220183486e-1
allele num: 10900
num of homozygotes: 3224

European (Finnish)
type: Population
allele count: 2489
allele frequency: 7.686843730697962e-1
allele num: 3238
num of homozygotes: 938

East Asian
type: Population
allele count: 3426
allele frequency: 8.02717900656045e-1
allele num: 4268
num of homozygotes: 1385

European (Non-Finnish)
type: Population
allele count: 25795
allele frequency: 6.96296496247908e-1
allele num: 37046
num of homozygotes: 8656

Latino
type: Population
allele count: 3303
allele frequency: 7.091026191498497e-1
allele num: 4658
num of homozygotes: 1139

Other
type: Population
allele count: 387
allele frequency: 7.062043795620438e-1
allele num: 548
num of homozygotes: 135

QD
type: SiteQuality
SIO_000300: 2.188e1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.703e-1

MQ
type: SiteQuality
SIO_000300: 5.425e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.052874e6

FS
type: SiteQuality
SIO_000300: 9.468e0

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 41

GenotypeQuality
all individuals: 1023
bin: 5.25e1
variant carriers: 31

GenotypeQuality
all individuals: 5216
bin: 1.75e1
variant carriers: 36

GenotypeQuality
all individuals: 702
bin: 7.25e1
variant carriers: 38

GenotypeQuality
all individuals: 3017
bin: 7.5e0
variant carriers: 23

GenotypeQuality
all individuals: 724
bin: 6.75e1
variant carriers: 49

GenotypeQuality
all individuals: 15155
bin: 9.75e1
variant carriers: 1981

GenotypeQuality
all individuals: 1315
bin: 4.75e1
variant carriers: 43

GenotypeQuality
all individuals: 760
bin: 5.75e1
variant carriers: 20

GenotypeQuality
all individuals: 5138
bin: 2.25e1
variant carriers: 37

GenotypeQuality
all individuals: 3783
bin: 2.5e0
variant carriers: 50

GenotypeQuality
all individuals: 1657
bin: 4.25e1
variant carriers: 21

GenotypeQuality
all individuals: 4327
bin: 2.75e1
variant carriers: 28

GenotypeQuality
all individuals: 2338
bin: 3.75e1
variant carriers: 24

GenotypeQuality
all individuals: 3411
bin: 3.25e1
variant carriers: 37

GenotypeQuality
all individuals: 665
bin: 9.25e1
variant carriers: 54

GenotypeQuality
all individuals: 674
bin: 7.75e1
variant carriers: 43

GenotypeQuality
all individuals: 710
bin: 8.25e1
variant carriers: 28

GenotypeQuality
all individuals: 771
bin: 6.25e1
variant carriers: 36

Latino
type: Population
allele count: 204
allele frequency: 4.379562043795621e-2
allele num: 4658
num of homozygotes: 5

South Asian
type: Population
allele count: 847
allele frequency: 7.770642201834863e-2
allele num: 10900
num of homozygotes: 22

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

East Asian
type: Population
allele count: 298
allele frequency: 6.982193064667291e-2
allele num: 4268
num of homozygotes: 11

Other
type: Population
allele count: 9
allele frequency: 1.642335766423358e-2
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 9.987583004912811e-4
allele num: 37046
num of homozygotes: 0

African
type: Population
allele count: 531
allele frequency: 8.64539238033214e-2
allele num: 6142
num of homozygotes: 20

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.425e1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

QD
type: SiteQuality
SIO_000300: 2.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.703e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 9.468e0

DP
type: SiteQuality
SIO_000300: 1.052874e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 1.4058106841612e-3
allele num: 4268
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 2.110091743119266e-3
allele num: 10900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.703e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.425e1

FS
type: SiteQuality
SIO_000300: 9.468e0

DP
type: SiteQuality
SIO_000300: 1.052874e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.703e-1

QD
type: SiteQuality
SIO_000300: 2.188e1

MQ
type: SiteQuality
SIO_000300: 5.425e1

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

FS
type: SiteQuality
SIO_000300: 9.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.052874e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.953760989905568e-3
allele num: 6142
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 1.052874e6

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.703e-1

MQ
type: SiteQuality
SIO_000300: 5.425e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

QD
type: SiteQuality
SIO_000300: 2.188e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 65
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5678
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GenotypeQuality
all individuals: 432
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variant carriers: 0

GenotypeQuality
all individuals: 610
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variant carriers: 0

GenotypeQuality
all individuals: 5553
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GenotypeQuality
all individuals: 134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
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GenotypeQuality
all individuals: 103
bin: 7.75e1
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GenotypeQuality
all individuals: 401
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GenotypeQuality
all individuals: 325
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GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
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variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.14070351758794e-4
allele num: 6368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1506
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.17e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.642e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.147249e6

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQ
type: SiteQuality
SIO_000300: 5.5e1

GenotypeQuality
all individuals: 610
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5553
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5678
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.340482573726542e-3
allele num: 746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.642e0

MQ
type: SiteQuality
SIO_000300: 5.5e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 1.147249e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 79

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 84

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 79

GenotypeQuality
all individuals: 10661
bin: 2.5e0
variant carriers: 73

GenotypeQuality
all individuals: 641
bin: 1.25e1
variant carriers: 148

GenotypeQuality
all individuals: 224
bin: 3.25e1
variant carriers: 93

GenotypeQuality
all individuals: 493
bin: 1.75e1
variant carriers: 133

GenotypeQuality
all individuals: 577
bin: 2.25e1
variant carriers: 110

GenotypeQuality
all individuals: 4057
bin: 7.5e0
variant carriers: 141

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 110

GenotypeQuality
all individuals: 138
bin: 6.75e1
variant carriers: 93

GenotypeQuality
all individuals: 201
bin: 6.25e1
variant carriers: 85

GenotypeQuality
all individuals: 144
bin: 7.25e1
variant carriers: 107

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 77

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 114

GenotypeQuality
all individuals: 4303
bin: 9.75e1
variant carriers: 4141

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 81

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 79

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 116

European (Non-Finnish)
type: Population
allele count: 3725
allele frequency: 4.448292333412945e-1
allele num: 8374
num of homozygotes: 111

Other
type: Population
allele count: 48
allele frequency: 4.137931034482759e-1
allele num: 116
num of homozygotes: 5

East Asian
type: Population
allele count: 20
allele frequency: 7.2992700729927e-2
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 268
allele frequency: 4.407894736842105e-1
allele num: 608
num of homozygotes: 6

African
type: Population
allele count: 160
allele frequency: 1.559454191033138e-1
allele num: 1026
num of homozygotes: 3

South Asian
type: Population
allele count: 326
allele frequency: 2.273361227336123e-1
allele num: 1434
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 195
allele frequency: 4.924242424242424e-1
allele num: 396
num of homozygotes: 4

MQ
type: SiteQuality
SIO_000300: 5.766e1

FS
type: SiteQuality
SIO_000300: 1.0333e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.56e-2

QD
type: SiteQuality
SIO_000300: 1.108e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 1.160876e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10661
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4057
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.072124756335283e-2
allele num: 1026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

FS
type: SiteQuality
SIO_000300: 1.0333e1

DP
type: SiteQuality
SIO_000300: 1.160876e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.56e-2

MQ
type: SiteQuality
SIO_000300: 5.766e1

QD
type: SiteQuality
SIO_000300: 1.108e1

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4057
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10661
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.388344877000239e-4
allele num: 8374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.56e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

QD
type: SiteQuality
SIO_000300: 1.108e1

FS
type: SiteQuality
SIO_000300: 1.0333e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.160876e6

GenotypeQuality
all individuals: 3167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4362
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 311
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.130710085933967e-4
allele num: 8844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

DP
type: SiteQuality
SIO_000300: 1.154344e6

MQ
type: SiteQuality
SIO_000300: 5.343e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

QD
type: SiteQuality
SIO_000300: 4.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1193
bin: 1.25e1
variant carriers: 56

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 46

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 57

GenotypeQuality
all individuals: 142
bin: 7.75e1
variant carriers: 69

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 57

GenotypeQuality
all individuals: 108
bin: 7.25e1
variant carriers: 49

GenotypeQuality
all individuals: 460
bin: 6.25e1
variant carriers: 37

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 42

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 46

GenotypeQuality
all individuals: 379
bin: 2.75e1
variant carriers: 42

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 63

GenotypeQuality
all individuals: 9097
bin: 2.5e0
variant carriers: 32

GenotypeQuality
all individuals: 7095
bin: 7.5e0
variant carriers: 58

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 35

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 51

GenotypeQuality
all individuals: 757
bin: 1.75e1
variant carriers: 63

GenotypeQuality
all individuals: 204
bin: 6.75e1
variant carriers: 58

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 35

GenotypeQuality
all individuals: 2371
bin: 9.75e1
variant carriers: 2171

European (Non-Finnish)
type: Population
allele count: 249
allele frequency: 4.076620825147348e-2
allele num: 6108
num of homozygotes: 0

African
type: Population
allele count: 578
allele frequency: 2.65869365225391e-1
allele num: 2174
num of homozygotes: 17

South Asian
type: Population
allele count: 953
allele frequency: 2.811209439528023e-1
allele num: 3390
num of homozygotes: 21

Latino
type: Population
allele count: 258
allele frequency: 3.350649350649351e-1
allele num: 770
num of homozygotes: 5

East Asian
type: Population
allele count: 365
allele frequency: 3.077571669477234e-1
allele num: 1186
num of homozygotes: 10

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.181102362204724e-2
allele num: 254
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 1.25e-1
allele num: 120
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 6.467e0

DP
type: SiteQuality
SIO_000300: 1.213271e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.707e0

MQ
type: SiteQuality
SIO_000300: 5.65e1

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 9.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 379
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 757
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9097
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7095
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 460
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 6.493506493506494e-3
allele num: 770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

DP
type: SiteQuality
SIO_000300: 1.213271e6

MQ
type: SiteQuality
SIO_000300: 5.65e1

QD
type: SiteQuality
SIO_000300: 9.33e0

FS
type: SiteQuality
SIO_000300: 6.467e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 651
bin: 3.25e1
variant carriers: 5

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 6

GenotypeQuality
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bin: 9.75e1
variant carriers: 29

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 8

GenotypeQuality
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bin: 3.75e1
variant carriers: 4

GenotypeQuality
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bin: 5.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 3

GenotypeQuality
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bin: 7.5e0
variant carriers: 9

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 264
bin: 6.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 3.535353535353536e-3
allele num: 1980
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 6.84931506849315e-3
allele num: 3212
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 8.720930232558139e-3
allele num: 688
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.272727272727273e-2
allele num: 880
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.466e0

FS
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.170335e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.206e-1

MQ
type: SiteQuality
SIO_000300: 5.477e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

QD
type: SiteQuality
SIO_000300: 5.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 2154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 700
bin: 3.25e1
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GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 938
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.370000000000001e-2

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -2.219e0

VQSLOD
type: SiteQuality
SIO_000300: -1.536e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

DP
type: SiteQuality
SIO_000300: 1.169498e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.284490145672665e-4
allele num: 2334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 5.456e1

VQSLOD
type: SiteQuality
SIO_000300: -9.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 1.976e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

MQRankSum
type: SiteQuality
SIO_000300: -9.75e-1

DP
type: SiteQuality
SIO_000300: 1.139621e6

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
all individuals: 3445
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 10082
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.285347043701799e-3
allele num: 778
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.045e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.59e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

QD
type: SiteQuality
SIO_000300: 8.130000000000001e0

DP
type: SiteQuality
SIO_000300: 1.184627e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

GenotypeQuality
all individuals: 777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 892
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 288
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GenotypeQuality
all individuals: 2345
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 127
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 8.431703204047217e-4
allele num: 3558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.59e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 1.184627e6

MQ
type: SiteQuality
SIO_000300: 5.045e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 8.839127872716559e-4
allele num: 3394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3046
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 1.177723e6

FS
type: SiteQuality
SIO_000300: 3.137e0

MQ
type: SiteQuality
SIO_000300: 5.125e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 715
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 3.067484662576687e-3
allele num: 2934
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 1.508e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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DP
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SIO_000300: 1.173543e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 140
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7214
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 6.079027355623101e-4
allele num: 3290
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.69e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.168347e6

QD
type: SiteQuality
SIO_000300: 2.392e1

VQSLOD
type: SiteQuality
SIO_000300: -4.216e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.39e-1

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 583
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1698
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 522
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 552
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 436
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 791
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 7524
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 471
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 592
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4429
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 997
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 643
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1957
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2338
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 933
bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 5.845674201091193e-4
allele num: 10264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

African
type: Population
allele count: 72
allele frequency: 2.477632484514797e-2
allele num: 2906
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 1.21654501216545e-3
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 6.042296072507553e-4
allele num: 3310
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.46e-2

QD
type: SiteQuality
SIO_000300: 4.65e0

DP
type: SiteQuality
SIO_000300: 1.160043e6

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

GenotypeQuality
all individuals: 1957
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7524
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 997
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 522
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2338
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 516
bin: 5.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3310
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 3.097040605643496e-3
allele num: 2906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 4.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.46e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.160043e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

GenotypeQuality
all individuals: 555
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 741
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 588
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1936
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1657
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5783
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6408
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 2158
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 531
bin: 5.25e1
variant carriers: 6

GenotypeQuality
all individuals: 206
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 419
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 718
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 493
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 522
bin: 6.75e1
variant carriers: 5

GenotypeQuality
all individuals: 966
bin: 9.75e1
variant carriers: 47

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

African
type: Population
allele count: 67
allele frequency: 2.574942352036895e-2
allele num: 2602
num of homozygotes: 1

South Asian
type: Population
allele count: 2
allele frequency: 6.548788474132286e-4
allele num: 3054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.524390243902439e-3
allele num: 656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 5.674080798910577e-4
allele num: 8812
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.79e-2

DP
type: SiteQuality
SIO_000300: 1.153033e6

QD
type: SiteQuality
SIO_000300: 4.65e0

GenotypeQuality
all individuals: 1257
bin: 4.25e1
variant carriers: 54

GenotypeQuality
all individuals: 3050
bin: 2.75e1
variant carriers: 102

GenotypeQuality
all individuals: 1135
bin: 6.75e1
variant carriers: 86

GenotypeQuality
all individuals: 994
bin: 6.25e1
variant carriers: 69

GenotypeQuality
all individuals: 4795
bin: 1.75e1
variant carriers: 140

GenotypeQuality
all individuals: 996
bin: 8.25e1
variant carriers: 84

GenotypeQuality
all individuals: 1097
bin: 4.75e1
variant carriers: 41

GenotypeQuality
all individuals: 2918
bin: 1.25e1
variant carriers: 101

GenotypeQuality
all individuals: 3172
bin: 3.25e1
variant carriers: 85

GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 81

GenotypeQuality
all individuals: 2130
bin: 7.5e0
variant carriers: 129

GenotypeQuality
all individuals: 5078
bin: 2.25e1
variant carriers: 151

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 81

GenotypeQuality
all individuals: 3321
bin: 2.5e0
variant carriers: 168

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 86

GenotypeQuality
all individuals: 18531
bin: 9.75e1
variant carriers: 1828

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 71

GenotypeQuality
all individuals: 1176
bin: 7.25e1
variant carriers: 91

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 114

South Asian
type: Population
allele count: 567
allele frequency: 5.496316401706088e-2
allele num: 10316
num of homozygotes: 6

Latino
type: Population
allele count: 97
allele frequency: 2.738565782044043e-2
allele num: 3542
num of homozygotes: 3

East Asian
type: Population
allele count: 101
allele frequency: 2.637075718015666e-2
allele num: 3830
num of homozygotes: 3

African
type: Population
allele count: 611
allele frequency: 1.143338323353293e-1
allele num: 5344
num of homozygotes: 22

European (Non-Finnish)
type: Population
allele count: 763
allele frequency: 2.404209730274767e-2
allele num: 31736
num of homozygotes: 28

European (Finnish)
type: Population
allele count: 33
allele frequency: 1.207022677395757e-2
allele num: 2734
num of homozygotes: 3

Other
type: Population
allele count: 18
allele frequency: 3.688524590163934e-2
allele num: 488
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 8.23275e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.463e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 2.534e1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.369999999999999e0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 865

GenotypeQuality
all individuals: 2918
bin: 1.25e1
variant carriers: 2048

GenotypeQuality
all individuals: 2130
bin: 7.5e0
variant carriers: 1441

GenotypeQuality
all individuals: 3050
bin: 2.75e1
variant carriers: 2423

GenotypeQuality
all individuals: 994
bin: 6.25e1
variant carriers: 864

GenotypeQuality
all individuals: 4795
bin: 1.75e1
variant carriers: 3679

GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 924

GenotypeQuality
all individuals: 996
bin: 8.25e1
variant carriers: 905

GenotypeQuality
all individuals: 3172
bin: 3.25e1
variant carriers: 2513

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 743

GenotypeQuality
all individuals: 1176
bin: 7.25e1
variant carriers: 1049

GenotypeQuality
all individuals: 3321
bin: 2.5e0
variant carriers: 2036

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 1629

GenotypeQuality
all individuals: 1257
bin: 4.25e1
variant carriers: 972

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 1115

GenotypeQuality
all individuals: 916
bin: 5.25e1
variant carriers: 725

GenotypeQuality
all individuals: 5078
bin: 2.25e1
variant carriers: 3961

GenotypeQuality
all individuals: 18531
bin: 9.75e1
variant carriers: 16121

GenotypeQuality
all individuals: 1097
bin: 4.75e1
variant carriers: 886

Latino
type: Population
allele count: 2089
allele frequency: 5.897797854319593e-1
allele num: 3542
num of homozygotes: 471

Other
type: Population
allele count: 243
allele frequency: 4.979508196721312e-1
allele num: 488
num of homozygotes: 39

East Asian
type: Population
allele count: 2167
allele frequency: 5.657963446475196e-1
allele num: 3830
num of homozygotes: 426

African
type: Population
allele count: 1608
allele frequency: 3.008982035928144e-1
allele num: 5344
num of homozygotes: 113

European (Finnish)
type: Population
allele count: 1730
allele frequency: 6.327724945135332e-1
allele num: 2734
num of homozygotes: 454

European (Non-Finnish)
type: Population
allele count: 17042
allele frequency: 5.369926896899421e-1
allele num: 31736
num of homozygotes: 3053

South Asian
type: Population
allele count: 5079
allele frequency: 4.923419930205506e-1
allele num: 10316
num of homozygotes: 504

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.369999999999999e0

DP
type: SiteQuality
SIO_000300: 8.23275e5

MQ
type: SiteQuality
SIO_000300: 5.463e1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 2.534e1

GenotypeQuality
all individuals: 5078
bin: 2.25e1
variant carriers: 369

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 361

GenotypeQuality
all individuals: 1257
bin: 4.25e1
variant carriers: 383

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 471

GenotypeQuality
all individuals: 4795
bin: 1.75e1
variant carriers: 487

GenotypeQuality
all individuals: 2130
bin: 7.5e0
variant carriers: 401

GenotypeQuality
all individuals: 3321
bin: 2.5e0
variant carriers: 370

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 850

GenotypeQuality
all individuals: 1135
bin: 6.75e1
variant carriers: 748

GenotypeQuality
all individuals: 3050
bin: 2.75e1
variant carriers: 344

GenotypeQuality
all individuals: 994
bin: 6.25e1
variant carriers: 635

GenotypeQuality
all individuals: 996
bin: 8.25e1
variant carriers: 691

GenotypeQuality
all individuals: 916
bin: 5.25e1
variant carriers: 442

GenotypeQuality
all individuals: 2918
bin: 1.25e1
variant carriers: 471

GenotypeQuality
all individuals: 18531
bin: 9.75e1
variant carriers: 7067

GenotypeQuality
all individuals: 3172
bin: 3.25e1
variant carriers: 357

GenotypeQuality
all individuals: 1097
bin: 4.75e1
variant carriers: 403

GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 703

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 622

African
type: Population
allele count: 947
allele frequency: 1.772080838323353e-1
allele num: 5344
num of homozygotes: 18

European (Finnish)
type: Population
allele count: 538
allele frequency: 1.96781272860278e-1
allele num: 2734
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 5703
allele frequency: 1.797012856062516e-1
allele num: 31736
num of homozygotes: 20

East Asian
type: Population
allele count: 781
allele frequency: 2.039164490861619e-1
allele num: 3830
num of homozygotes: 2

South Asian
type: Population
allele count: 2347
allele frequency: 2.275106630476929e-1
allele num: 10316
num of homozygotes: 7

Latino
type: Population
allele count: 663
allele frequency: 1.871823828345567e-1
allele num: 3542
num of homozygotes: 3

Other
type: Population
allele count: 95
allele frequency: 1.94672131147541e-1
allele num: 488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.94e-1

DP
type: SiteQuality
SIO_000300: 8.23275e5

MQ
type: SiteQuality
SIO_000300: 5.463e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.369999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.534e1

GenotypeQuality
all individuals: 996
bin: 8.25e1
variant carriers: 181

GenotypeQuality
all individuals: 4795
bin: 1.75e1
variant carriers: 705

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 176

GenotypeQuality
all individuals: 1257
bin: 4.25e1
variant carriers: 313

GenotypeQuality
all individuals: 994
bin: 6.25e1
variant carriers: 168

GenotypeQuality
all individuals: 1097
bin: 4.75e1
variant carriers: 232

GenotypeQuality
all individuals: 5078
bin: 2.25e1
variant carriers: 776

GenotypeQuality
all individuals: 1135
bin: 6.75e1
variant carriers: 181

GenotypeQuality
all individuals: 3050
bin: 2.75e1
variant carriers: 506

GenotypeQuality
all individuals: 2130
bin: 7.5e0
variant carriers: 396

GenotypeQuality
all individuals: 18531
bin: 9.75e1
variant carriers: 8631

GenotypeQuality
all individuals: 2918
bin: 1.25e1
variant carriers: 548

GenotypeQuality
all individuals: 1176
bin: 7.25e1
variant carriers: 210

GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 233

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 195

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 199

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 448

GenotypeQuality
all individuals: 916
bin: 5.25e1
variant carriers: 215

GenotypeQuality
all individuals: 3172
bin: 3.25e1
variant carriers: 572

African
type: Population
allele count: 435
allele frequency: 8.13997005988024e-2
allele num: 5344
num of homozygotes: 26

Latino
type: Population
allele count: 434
allele frequency: 1.225296442687747e-1
allele num: 3542
num of homozygotes: 63

European (Finnish)
type: Population
allele count: 415
allele frequency: 1.517922457937088e-1
allele num: 2734
num of homozygotes: 61

European (Non-Finnish)
type: Population
allele count: 7903
allele frequency: 2.490231913284598e-1
allele num: 31736
num of homozygotes: 1274

Other
type: Population
allele count: 105
allele frequency: 2.151639344262295e-1
allele num: 488
num of homozygotes: 17

East Asian
type: Population
allele count: 449
allele frequency: 1.172323759791123e-1
allele num: 3830
num of homozygotes: 45

South Asian
type: Population
allele count: 1345
allele frequency: 1.303799922450562e-1
allele num: 10316
num of homozygotes: 122

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 2.534e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.23275e5

VQSLOD
type: SiteQuality
SIO_000300: 8.369999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.463e1

GenotypeQuality
all individuals: 18531
bin: 9.75e1
variant carriers: 48

GenotypeQuality
all individuals: 2918
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 916
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5078
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3172
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3321
bin: 2.5e0
variant carriers: 9

GenotypeQuality
all individuals: 4795
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 994
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.82326369282891e-4
allele num: 3542
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 7.859281437125748e-3
allele num: 5344
num of homozygotes: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.452987143937485e-5
allele num: 31736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.463e1

VQSLOD
type: SiteQuality
SIO_000300: 8.369999999999999e0

QD
type: SiteQuality
SIO_000300: 2.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 8.23275e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1097
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3172
bin: 3.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 994
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3321
bin: 2.5e0
variant carriers: 13

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1211
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2918
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1257
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 4795
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1176
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 5078
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 18531
bin: 9.75e1
variant carriers: 107

GenotypeQuality
all individuals: 996
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 51
allele frequency: 9.543413173652695e-3
allele num: 5344
num of homozygotes: 1

Latino
type: Population
allele count: 6
allele frequency: 1.693958215697346e-3
allele num: 3542
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.098360655737705e-3
allele num: 488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 7.31528895391368e-4
allele num: 2734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 7.247290143685404e-4
allele num: 31736
num of homozygotes: 1

East Asian
type: Population
allele count: 4
allele frequency: 1.044386422976501e-3
allele num: 3830
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 3.392787902287708e-3
allele num: 10316
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 2.534e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 8.23275e5

VQSLOD
type: SiteQuality
SIO_000300: 8.369999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.463e1

GenotypeQuality
all individuals: 224
bin: 1.75e1
variant carriers: 67

GenotypeQuality
all individuals: 82
bin: 6.25e1
variant carriers: 41

GenotypeQuality
all individuals: 207
bin: 2.75e1
variant carriers: 70

GenotypeQuality
all individuals: 64
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 46
bin: 8.25e1
variant carriers: 16

GenotypeQuality
all individuals: 47
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 101

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 37

GenotypeQuality
all individuals: 62
bin: 7.25e1
variant carriers: 30

GenotypeQuality
all individuals: 272
bin: 3.25e1
variant carriers: 89

GenotypeQuality
all individuals: 4911
bin: 2.5e0
variant carriers: 65

GenotypeQuality
all individuals: 294
bin: 7.5e0
variant carriers: 95

GenotypeQuality
all individuals: 182
bin: 1.25e1
variant carriers: 61

GenotypeQuality
all individuals: 72
bin: 6.75e1
variant carriers: 45

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 76

GenotypeQuality
all individuals: 296
bin: 9.75e1
variant carriers: 92

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 33

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 28

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 12

Latino
type: Population
allele count: 9
allele frequency: 8.490566037735849e-2
allele num: 106
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.0e-1
allele num: 40
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 3.144654088050314e-2
allele num: 636
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.263157894736842e-2
allele num: 76
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 2.862595419847328e-2
allele num: 524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 6.329113924050633e-2
allele num: 948
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.242e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 4.207e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.533e1

DP
type: SiteQuality
SIO_000300: 1.119602e6

GenotypeQuality
all individuals: 3330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11047
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7421
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7922
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3895
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.073442e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.35e0

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

MQ
type: SiteQuality
SIO_000300: 4.512e1

GenotypeQuality
all individuals: 5496
bin: 1.75e1
variant carriers: 68

GenotypeQuality
all individuals: 5932
bin: 2.25e1
variant carriers: 99

GenotypeQuality
all individuals: 363
bin: 6.75e1
variant carriers: 45

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 16

GenotypeQuality
all individuals: 4355
bin: 7.5e0
variant carriers: 92

GenotypeQuality
all individuals: 640
bin: 4.25e1
variant carriers: 29

GenotypeQuality
all individuals: 21673
bin: 2.5e0
variant carriers: 65

GenotypeQuality
all individuals: 3358
bin: 1.25e1
variant carriers: 62

GenotypeQuality
all individuals: 2964
bin: 3.25e1
variant carriers: 86

GenotypeQuality
all individuals: 431
bin: 6.25e1
variant carriers: 40

GenotypeQuality
all individuals: 646
bin: 4.75e1
variant carriers: 28

GenotypeQuality
all individuals: 1607
bin: 3.75e1
variant carriers: 75

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 32

GenotypeQuality
all individuals: 1185
bin: 9.75e1
variant carriers: 103

GenotypeQuality
all individuals: 2471
bin: 2.75e1
variant carriers: 70

GenotypeQuality
all individuals: 295
bin: 7.25e1
variant carriers: 30

GenotypeQuality
all individuals: 173
bin: 9.25e1
variant carriers: 21

GenotypeQuality
all individuals: 272
bin: 7.75e1
variant carriers: 32

European (Finnish)
type: Population
allele count: 4
allele frequency: 2.684563758389262e-3
allele num: 1490
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 4.926108374384237e-3
allele num: 2030
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 4.312823461759632e-3
allele num: 3478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.432664756446991e-3
allele num: 2094
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.69045830202855e-3
allele num: 5324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 3.232758620689655e-3
allele num: 15776
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.217e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

DP
type: SiteQuality
SIO_000300: 1.059819e6

QD
type: SiteQuality
SIO_000300: 3.003e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 4.308e0

VQSLOD
type: SiteQuality
SIO_000300: -2.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 719
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 613
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5512
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4575
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5966
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7016
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12332
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1884
bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.392901071867862e-5
allele num: 45528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12286
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

FS
type: SiteQuality
SIO_000300: 9.212999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 1.327115e6

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
all individuals: 8210
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2712
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14281
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2735
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5941
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5494
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 7032
bin: 9.75e1
variant carriers: 36

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12286
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 7.694336967991558e-4
allele num: 45488
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.334389e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 743
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5486
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5023
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5891
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8201
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2327
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45776
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.488981536628946e-4
allele num: 6716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12314
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
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SIO_000300: 1.343051e6

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

VQSLOD
type: SiteQuality
SIO_000300: -6.995e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 9.4e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4616
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.467997651203758e-4
allele num: 6812
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

DP
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SIO_000300: 1.372235e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 1.336541031809677e-4
allele num: 7482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12788
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49508
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.923e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.232e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.057e0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.48933e6

ReadPosRankSum
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SIO_000300: 2.29e0

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.965254303906926e-5
allele num: 50884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.527958e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 7.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1959
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

African
type: Population
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: 7430
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54194
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

BaseQRankSum
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SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.603499e6

QD
type: SiteQuality
SIO_000300: 1.258e1

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8874
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13446
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 7.335949822103217e-5
allele num: 54526
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.778599886169607e-5
allele num: 56224
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56888
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 7.22334585379948e-5
allele num: 13844
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57214
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5404
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.2e-3

MQRankSum
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BaseQRankSum
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SIO_000300: 0.0e0

MQ
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FS
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DP
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ClippingRankSum
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SIO_000300: -3.86e-1

ReadPosRankSum
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SIO_000300: 6.27e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.895e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13936
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 4.207868714496107e-4
allele num: 9506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.679088e6

FS
type: SiteQuality
SIO_000300: 1.036e0

ClippingRankSum
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SIO_000300: 1.03e0

MQRankSum
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BaseQRankSum
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SIO_000300: 8.66e-1

VQSLOD
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ReadPosRankSum
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SIO_000300: 1.77e-1

InbreedingCoeff
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SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.08e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.078050884001725e-4
allele num: 9276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 8.552271483305966e-5
allele num: 58464
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -3.995e0

MQ
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SIO_000300: 5.89e1

ClippingRankSum
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SIO_000300: 5.78e-1

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -9.0e-4

FS
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SIO_000300: 1.11617e2

MQRankSum
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SIO_000300: -3.12e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.694879e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 280

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

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 2

Other
type: Population
allele count: 2
allele frequency: 2.493765586034913e-3
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 182
allele frequency: 3.08966828506434e-3
allele num: 58906
num of homozygotes: 2

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

European (Finnish)
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allele count: 103
allele frequency: 1.837317160185516e-2
allele num: 5606
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.072041166380789e-4
allele num: 9328
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
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SIO_000300: 7.8e-3

ClippingRankSum
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SIO_000300: -1.27e-1

MQRankSum
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SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 1.703471e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.478e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 704
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.368200836820084e-5
allele num: 59750
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.007049345417925e-4
allele num: 9930
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.001820473323065e-5
allele num: 14282
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.719719e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.672912205567452e-5
allele num: 59776
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.66688891852247e-5
allele num: 59992
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5672
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East Asian
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allele num: 8090
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.964758322886195e-5
allele num: 14358
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.011e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 2.801e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.041e0

DP
type: SiteQuality
SIO_000300: 1.727629e6

QD
type: SiteQuality
SIO_000300: 7.29e0

VQSLOD
type: SiteQuality
SIO_000300: -7.086e-1

GenotypeDepth
all individuals: 395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7019
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657165583985152e-5
allele num: 60344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.845e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 5.61e0

DP
type: SiteQuality
SIO_000300: 1.72709e6

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeDepth
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7017
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.052853232259423e-4
allele num: 9498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 8.039999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.675e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.716468e6

GenotypeDepth
all individuals: 2488
bin: 9.75e1
variant carriers: 235

GenotypeDepth
all individuals: 312
bin: 7.75e1
variant carriers: 21

GenotypeQuality
all individuals: 27773
bin: 6.25e1
variant carriers: 26

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 42

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 528
bin: 5.75e1
variant carriers: 22

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 6.75e1
variant carriers: 34

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 31

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 9550
bin: 2.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1043
bin: 3.75e1
variant carriers: 17

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 740
bin: 7.25e1
variant carriers: 34

GenotypeQuality
all individuals: 2301
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 679
bin: 8.25e1
variant carriers: 40

GenotypeQuality
all individuals: 9811
bin: 9.75e1
variant carriers: 3094

GenotypeQuality
all individuals: 462
bin: 4.75e1
variant carriers: 23

GenotypeQuality
all individuals: 2132
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 823
bin: 5.25e1
variant carriers: 21

Latino
type: Population
allele count: 449
allele frequency: 4.479249800478851e-2
allele num: 10024
num of homozygotes: 8

African
type: Population
allele count: 81
allele frequency: 8.562367864693447e-3
allele num: 9460
num of homozygotes: 1

Other
type: Population
allele count: 22
allele frequency: 2.67639902676399e-2
allele num: 822
num of homozygotes: 0

South Asian
type: Population
allele count: 175
allele frequency: 1.216122307157748e-2
allele num: 14390
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 300
allele frequency: 5.255781359495445e-2
allele num: 5708
num of homozygotes: 4

East Asian
type: Population
allele count: 5
allele frequency: 6.246876561719141e-4
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2437
allele frequency: 4.026102758962498e-2
allele num: 60530
num of homozygotes: 48

FS
type: SiteQuality
SIO_000300: 1.832e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

QD
type: SiteQuality
SIO_000300: 1.188e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

DP
type: SiteQuality
SIO_000300: 1.718378e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

GenotypeQuality
all individuals: 2302
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11640
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26564
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7015
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14354
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.121340687314383e-4
allele num: 9428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7974
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.514e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 2.639e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.656626e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.511e0