9-115015071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015071
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015071
    reference: chr 9
allele count: 4
allele frequency: 3.435422642870639e-5
allele num: 116434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-3C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-3C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-3C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-3C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-3C>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
hgvs: c.619-3C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

9-115015080-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015080
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015080
    reference: chr 9
allele count: 238
allele frequency: 2.107798855766336e-3
allele num: 112914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-12A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-12A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-12A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-12A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-12A>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18945
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 18286
  bin: 2.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 3.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 9.75e1
  variant carriers: 236
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10007
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-115015081-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015081
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015081
    reference: chr 9
allele count: 1
allele frequency: 8.920924921495861e-6
allele num: 112096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-13A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-13A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-13A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-13A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-13A>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1675
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 11329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

9-115015082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015082
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015082
    reference: chr 9
allele count: 2
allele frequency: 1.786320358693128e-5
allele num: 111962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-14G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-14G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-14G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-14G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-14G>A
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17474
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

9-115015089-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015089
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015089
    reference: chr 9
allele count: 1
allele frequency: 9.199124243372031e-6
allele num: 108706
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-21C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-21C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-21C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-21C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-21C>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14775
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

9-115015092-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015092
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015092
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 107570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-24A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-24A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-24A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-24A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-24A>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/9-115015094-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015094
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015094
    reference: chr 9
allele count: 1
allele frequency: 9.378047865556305e-6
allele num: 106632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-26T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-26T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-26T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-26T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-26T>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19763
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

9-115015098-TAAAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015098
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015093
    reference: chr 9
allele count: 1
allele frequency: 9.56297217175098e-6
allele num: 104570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-35_610-31delCTTTT
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-35_619-31delCTTTT
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-35_517-31delCTTTT
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-35_316-31delCTTTT
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-35_601-31delCTTTT
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21788
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: TAAAAG
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

9-115015106-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015106
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015106
    reference: chr 9
allele count: 2
allele frequency: 1.983890806650002e-5
allele num: 100812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-38T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-38T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-38T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-38T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-38T>C
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22642
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ

9-115015110-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115015110
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115015110
    reference: chr 9
allele count: 10
allele frequency: 1.03005706516141e-4
allele num: 97082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.610-42T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.316-42T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.517-42T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.601-42T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.619-42T>C
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21396
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

9-115024670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024670
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024670
    reference: chr 9
allele count: 1
allele frequency: 8.392218734789103e-6
allele num: 119158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+45C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+45C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+45C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+45C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+45C>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

9-115024673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024673
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024673
    reference: chr 9
allele count: 4
allele frequency: 3.355085470802369e-5
allele num: 119222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+42T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+42T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+42T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+42T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+42T>C
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24866
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

9-115024682-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024682
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024682
    reference: chr 9
allele count: 1
allele frequency: 8.379420144126027e-6
allele num: 119340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+33A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+33A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+33A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+33A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+33A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

9-115024685-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024685
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024685
    reference: chr 9
allele count: 1
allele frequency: 8.374507997655138e-6
allele num: 119410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+30T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+30T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+30T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+30T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+30T>A
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24904
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

9-115024687-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024687
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024687
    reference: chr 9
allele count: 12
allele frequency: 1.004654901041492e-4
allele num: 119444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+28A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+28A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+28A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+28A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+28A>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

9-115024689-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024689
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024689
    reference: chr 9
allele count: 1
allele frequency: 8.369741709770836e-6
allele num: 119478
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+26A>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+26A>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+26A>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+26A>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+26A>C
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

9-115024694-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024694
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024694
    reference: chr 9
allele count: 1
allele frequency: 8.359945827551038e-6
allele num: 119618
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+21T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+21T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+21T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+21T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+21T>A
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24924
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

9-115024695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024695
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024695
    reference: chr 9
allele count: 58233
allele frequency: 4.832614107883818e-1
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+20C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+20C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+20C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+20C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+20C>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.25e1
  variant carriers: 1847
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 5.25e1
  variant carriers: 3287
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 5.75e1
  variant carriers: 3949
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 1163
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.75e1
  variant carriers: 593
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 7.75e1
  variant carriers: 3304
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 2.25e1
  variant carriers: 514
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 7.25e1
  variant carriers: 3731
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 2827
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 375
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 6.75e1
  variant carriers: 4145
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 3.25e1
  variant carriers: 755
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 2201
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 4.75e1
  variant carriers: 2589
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 9.75e1
  variant carriers: 5857
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 1630
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 6.25e1
  variant carriers: 4183
genotype quality: GenotypeQuality
  all individuals: 12667
  bin: 6.25e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 100
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.75e1
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 6.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.25e1
  variant carriers: 145
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 104
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 68
num of homozygotes: 14863
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

9-115024699-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024699
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024699
    reference: chr 9
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+16T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+16T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+16T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+16T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+16T>A
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

9-115024700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024700
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024700
    reference: chr 9
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+15A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+15A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+15A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+15A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+15A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-115024704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024704
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024704
    reference: chr 9
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.315+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.600+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.516+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.609+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.618+11A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-115024739-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024739
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024739
    reference: chr 9
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.576T>C
  hgvsp: ENST00000374255.2:c.576T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.492T>C
  hgvsp: ENST00000374257.1:c.492T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.365T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.585T>C
  hgvsp: ENST00000334318.6:c.585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.291T>C
  hgvsp: ENST00000343327.2:c.291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.594T>C
  hgvsp: ENST00000458258.1:c.594T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro198Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

9-115024740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024740
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024740
    reference: chr 9
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.593C>T
  hgvsp: ENSP00000414921.1:p.Pro198Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.575C>T
  hgvsp: ENSP00000363373.2:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.491C>T
  hgvsp: ENSP00000363375.1:p.Pro164Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.584C>T
  hgvsp: ENSP00000334499.6:p.Pro195Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.364C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.290C>T
  hgvsp: ENSP00000340705.2:p.Pro97Leu
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro198Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

9-115024748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024748
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024748
    reference: chr 9
allele count: 5
allele frequency: 4.133051183705859e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.356C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.567C>T
  hgvsp: ENST00000374255.2:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.282C>T
  hgvsp: ENST00000343327.2:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.483C>T
  hgvsp: ENST00000374257.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.585C>T
  hgvsp: ENST00000458258.1:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.576C>T
  hgvsp: ENST00000334318.6:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu195Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

9-115024765-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024765
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024765
    reference: chr 9
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.568A>G
  hgvsp: ENSP00000414921.1:p.Ile190Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.466A>G
  hgvsp: ENSP00000363375.1:p.Ile156Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.265A>G
  hgvsp: ENSP00000340705.2:p.Ile89Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.550A>G
  hgvsp: ENSP00000363373.2:p.Ile184Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.559A>G
  hgvsp: ENSP00000334499.6:p.Ile187Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.339A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile190Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

9-115024772-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024772
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024772
    reference: chr 9
allele count: 2
allele frequency: 1.651773178507128e-5
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.332G>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.258G>C
  hgvsp: ENST00000343327.2:c.258G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.561G>C
  hgvsp: ENST00000458258.1:c.561G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.543G>C
  hgvsp: ENST00000374255.2:c.543G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.552G>C
  hgvsp: ENST00000334318.6:c.552G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.459G>C
  hgvsp: ENST00000374257.1:c.459G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val187Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-115024779-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024779
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024779
    reference: chr 9
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.251G>T
  hgvsp: ENSP00000340705.2:p.Ser84Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.554G>T
  hgvsp: ENSP00000414921.1:p.Ser185Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.545G>T
  hgvsp: ENSP00000334499.6:p.Ser182Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.452G>T
  hgvsp: ENSP00000363375.1:p.Ser151Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.325G>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.536G>T
  hgvsp: ENSP00000363373.2:p.Ser179Ile
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser185Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

9-115024779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024779
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024779
    reference: chr 9
allele count: 2
allele frequency: 1.651064110819423e-5
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.545G>A
  hgvsp: ENSP00000334499.6:p.Ser182Asn
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.325G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.251G>A
  hgvsp: ENSP00000340705.2:p.Ser84Asn
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.452G>A
  hgvsp: ENSP00000363375.1:p.Ser151Asn
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.536G>A
  hgvsp: ENSP00000363373.2:p.Ser179Asn
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.554G>A
  hgvsp: ENSP00000414921.1:p.Ser185Asn
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ser185Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-115024782-TGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024782
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024779
    reference: chr 9
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.548_550delGGC
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.530_532delGGC
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.539_541delGGC
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.245_247delGGC
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.319_321delGGC
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.446_448delGGC
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12692
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly183_Gln184delinsGlu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: TGCC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

9-115024787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024787
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024787
    reference: chr 9
allele count: 43
allele frequency: 3.549260433174855e-4
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.528T>C
  hgvsp: ENST00000374255.2:c.528T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.537T>C
  hgvsp: ENST00000334318.6:c.537T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.317T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.243T>C
  hgvsp: ENST00000343327.2:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.546T>C
  hgvsp: ENST00000210227.4:c.546T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.546T>C
  hgvsp: ENST00000458258.1:c.546T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.444T>C
  hgvsp: ENST00000374257.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro182Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

9-115024791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024791
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024791
    reference: chr 9
allele count: 9
allele frequency: 7.429420505200594e-5
allele num: 121140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.524T>C
  hgvsp: ENSP00000363373.2:p.Leu175Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.239T>C
  hgvsp: ENSP00000340705.2:p.Leu80Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.533T>C
  hgvsp: ENSP00000334499.6:p.Leu178Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.542T>C
  hgvsp: ENSP00000414921.1:p.Leu181Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.542T>C
  hgvsp: ENSP00000210227.4:p.Leu181Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.440T>C
  hgvsp: ENSP00000363375.1:p.Leu147Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.313T>C
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu181Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

9-115024795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024795
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024795
    reference: chr 9
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.529G>A
  hgvsp: ENSP00000334499.6:p.Val177Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.520G>A
  hgvsp: ENSP00000363373.2:p.Val174Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.538G>A
  hgvsp: ENSP00000210227.4:p.Val180Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.309G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.235G>A
  hgvsp: ENSP00000340705.2:p.Val79Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.538G>A
  hgvsp: ENSP00000414921.1:p.Val180Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.436G>A
  hgvsp: ENSP00000363375.1:p.Val146Ile
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Val180Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-115024796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024796
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024796
    reference: chr 9
allele count: 721
allele frequency: 5.95179131583292e-3
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.519A>G
  hgvsp: ENST00000374255.2:c.519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.435A>G
  hgvsp: ENST00000374257.1:c.435A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.308A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.537A>G
  hgvsp: ENST00000210227.4:c.537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.234A>G
  hgvsp: ENST00000343327.2:c.234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.528A>G
  hgvsp: ENST00000334318.6:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.537A>G
  hgvsp: ENST00000458258.1:c.537A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12688
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10519
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 32645
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 4.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 9.75e1
  variant carriers: 700
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr179Thr
num of homozygotes: 19
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

9-115024798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024798
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024798
    reference: chr 9
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.526A>G
  hgvsp: ENSP00000334499.6:p.Thr176Ala
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.306A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.433A>G
  hgvsp: ENSP00000363375.1:p.Thr145Ala
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.535A>G
  hgvsp: ENSP00000414921.1:p.Thr179Ala
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.232A>G
  hgvsp: ENSP00000340705.2:p.Thr78Ala
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.535A>G
  hgvsp: ENSP00000210227.4:p.Thr179Ala
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.517A>G
  hgvsp: ENSP00000363373.2:p.Thr173Ala
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr179Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

9-115024806-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024806
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024806
    reference: chr 9
allele count: 10
allele frequency: 8.256820133430213e-5
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.518A>G
  hgvsp: ENSP00000334499.6:p.Asn173Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.298A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.527A>G
  hgvsp: ENSP00000414921.1:p.Asn176Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.425A>G
  hgvsp: ENSP00000363375.1:p.Asn142Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.224A>G
  hgvsp: ENSP00000340705.2:p.Asn75Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.509A>G
  hgvsp: ENSP00000363373.2:p.Asn170Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.527A>G
  hgvsp: ENSP00000210227.4:p.Asn176Ser
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn176Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

9-115024841-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024841
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024841
    reference: chr 9
allele count: 44
allele frequency: 3.639491794600318e-4
allele num: 120896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.483A>G
  hgvsp: ENST00000334318.6:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.492A>G
  hgvsp: ENST00000210227.4:c.492A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.263A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.189A>G
  hgvsp: ENST00000343327.2:c.189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.492A>G
  hgvsp: ENST00000458258.1:c.492A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.390A>G
  hgvsp: ENST00000374257.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.474A>G
  hgvsp: ENST00000374255.2:c.474A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32982
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln164Gln
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

9-115024842-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024842
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024842
    reference: chr 9
allele count: 260
allele frequency: 2.151391784993215e-3
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.473A>C
  hgvsp: ENSP00000363373.2:p.Gln158Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.389A>C
  hgvsp: ENSP00000363375.1:p.Gln130Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.491A>C
  hgvsp: ENSP00000414921.1:p.Gln164Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.482A>C
  hgvsp: ENSP00000334499.6:p.Gln161Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.262A>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.188A>C
  hgvsp: ENSP00000340705.2:p.Gln63Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.491A>C
  hgvsp: ENSP00000210227.4:p.Gln164Pro
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12684
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 32963
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 260
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln164Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

9-115024846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024846
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024846
    reference: chr 9
allele count: 3
allele frequency: 2.482950407203867e-5
allele num: 120824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.487G>A
  hgvsp: ENSP00000414921.1:p.Val163Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.385G>A
  hgvsp: ENSP00000363375.1:p.Val129Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.469G>A
  hgvsp: ENSP00000363373.2:p.Val157Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.184G>A
  hgvsp: ENSP00000340705.2:p.Val62Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.487G>A
  hgvsp: ENSP00000210227.4:p.Val163Ile
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.258G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.478G>A
  hgvsp: ENSP00000334499.6:p.Val160Ile
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val163Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

9-115024847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024847
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024847
    reference: chr 9
allele count: 3
allele frequency: 2.484101748807631e-5
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.477C>T
  hgvsp: ENST00000334318.6:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.486C>T
  hgvsp: ENST00000210227.4:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.384C>T
  hgvsp: ENST00000374257.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.468C>T
  hgvsp: ENST00000374255.2:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.183C>T
  hgvsp: ENST00000343327.2:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.257C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.486C>T
  hgvsp: ENST00000458258.1:c.486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33071
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8079
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala162Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-115024863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024863
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024863
    reference: chr 9
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.470T>C
  hgvsp: ENSP00000414921.1:p.Leu157Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.461T>C
  hgvsp: ENSP00000334499.6:p.Leu154Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.368T>C
  hgvsp: ENSP00000363375.1:p.Leu123Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.470T>C
  hgvsp: ENSP00000210227.4:p.Leu157Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.452T>C
  hgvsp: ENSP00000363373.2:p.Leu151Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.167T>C
  hgvsp: ENSP00000340705.2:p.Leu56Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.241T>C
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu157Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

9-115024866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024866
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024866
    reference: chr 9
allele count: 2
allele frequency: 1.665639522294585e-5
allele num: 120074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.365C>T
  hgvsp: ENSP00000363375.1:p.Ala122Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.238C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.458C>T
  hgvsp: ENSP00000334499.6:p.Ala153Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.467C>T
  hgvsp: ENSP00000210227.4:p.Ala156Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.164C>T
  hgvsp: ENSP00000340705.2:p.Ala55Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.449C>T
  hgvsp: ENSP00000363373.2:p.Ala150Val
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.467C>T
  hgvsp: ENSP00000414921.1:p.Ala156Val
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10480
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala156Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-115024878-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024878
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024878
    reference: chr 9
allele count: 1
allele frequency: 8.448800270361608e-6
allele num: 118360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.455G>T
  hgvsp: ENSP00000210227.4:p.Arg152Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.226G>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.446G>T
  hgvsp: ENSP00000334499.6:p.Arg149Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.437G>T
  hgvsp: ENSP00000363373.2:p.Arg146Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.455G>T
  hgvsp: ENSP00000414921.1:p.Arg152Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.152G>T
  hgvsp: ENSP00000340705.2:p.Arg51Leu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.353G>T
  hgvsp: ENSP00000363375.1:p.Arg118Leu
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg152Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

9-115024878-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024878
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024878
    reference: chr 9
allele count: 1
allele frequency: 8.448800270361608e-6
allele num: 118360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.455G>C
  hgvsp: ENSP00000414921.1:p.Arg152Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.353G>C
  hgvsp: ENSP00000363375.1:p.Arg118Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.437G>C
  hgvsp: ENSP00000363373.2:p.Arg146Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.152G>C
  hgvsp: ENSP00000340705.2:p.Arg51Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.446G>C
  hgvsp: ENSP00000334499.6:p.Arg149Pro
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.226G>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.455G>C
  hgvsp: ENSP00000210227.4:p.Arg152Pro
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg152Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

9-115024878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024878
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024878
    reference: chr 9
allele count: 1
allele frequency: 8.448800270361608e-6
allele num: 118360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.437G>A
  hgvsp: ENSP00000363373.2:p.Arg146Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.455G>A
  hgvsp: ENSP00000210227.4:p.Arg152Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.152G>A
  hgvsp: ENSP00000340705.2:p.Arg51Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.226G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.446G>A
  hgvsp: ENSP00000334499.6:p.Arg149Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.455G>A
  hgvsp: ENSP00000414921.1:p.Arg152Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.353G>A
  hgvsp: ENSP00000363375.1:p.Arg118Gln
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg152Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

9-115024885-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024885
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024885
    reference: chr 9
allele count: 1
allele frequency: 8.542335816305611e-6
allele num: 117064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-6C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-6C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-6C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-6C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-6C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-6C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-6C>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6889
  bin: 6.75e1
  variant carriers: 0
hgvs: c.454-6C>G
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-115024899-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024899
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024899
    reference: chr 9
allele count: 1
allele frequency: 8.829242450997704e-6
allele num: 113260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-20C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-20C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-20C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-20C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-20C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-20C>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-20C>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2820
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/9-115024910-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024910
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024910
    reference: chr 9
allele count: 1
allele frequency: 8.98375736668104e-6
allele num: 111312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-31T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-31T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-31T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-31T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-31T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-31T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-31T>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21334
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

9-115024914-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024914
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024914
    reference: chr 9
allele count: 1
allele frequency: 9.106638739641198e-6
allele num: 109810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-35A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-35A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-35A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-35A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-35A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-35A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-35A>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14795
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

9-115024920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024920
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024920
    reference: chr 9
allele count: 7
allele frequency: 6.581792880380616e-5
allele num: 106354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-41G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-41G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-41G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-41G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-41G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-41G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-41G>A
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

9-115024921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024921
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024921
    reference: chr 9
allele count: 9
allele frequency: 8.518210040130234e-5
allele num: 105656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-42C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-42C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-42C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-42C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-42C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-42C>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-42C>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 7675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

9-115024924-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024924
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024924
    reference: chr 9
allele count: 1
allele frequency: 9.574875526618154e-6
allele num: 104440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-45A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-45A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-45A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-45A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-45A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-45A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-45A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19031
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8054
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

9-115024927-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024927
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024927
    reference: chr 9
allele count: 1
allele frequency: 9.798926037706268e-6
allele num: 102052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-48A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-48A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-48A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-48A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-48A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-48A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-48A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4865
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/9-115024931-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115024931
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115024931
    reference: chr 9
allele count: 1
allele frequency: 1.006096947501861e-5
allele num: 99394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.225-52T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.151-52T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.436-52T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.445-52T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.352-52T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.454-52T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.454-52T>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18315
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/9-115030285-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030285
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030285
    reference: chr 9
allele count: 5
allele frequency: 4.329754069968826e-5
allele num: 115480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+44G>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+44G>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+44G>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+44G>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+44G>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+44G>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+44G>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29008
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

9-115030293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030293
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030293
    reference: chr 9
allele count: 27
allele frequency: 2.329313111444692e-4
allele num: 115914
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+36G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+36G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+36G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+36G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+36G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+36G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+36G>A
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18337
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17263
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-115030298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030298
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030298
    reference: chr 9
allele count: 315
allele frequency: 2.708279597627031e-3
allele num: 116310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+31T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+31T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+31T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+31T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+31T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+31T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+31T>C
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18379
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 18713
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4559
  bin: 9.75e1
  variant carriers: 306
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 5
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

9-115030299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030299
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030299
    reference: chr 9
allele count: 1
allele frequency: 8.596530440314289e-6
allele num: 116326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+30G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+30G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+30G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+30G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+30G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+30G>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+30G>A
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

9-115030307-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030307
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030307
    reference: chr 9
allele count: 1
allele frequency: 8.551247627028784e-6
allele num: 116942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+22A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+22A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+22A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+22A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+22A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+22A>T
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+22A>T
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20099
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-115030314-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030314
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030314
    reference: chr 9
allele count: 1
allele frequency: 8.492569002123141e-6
allele num: 117750
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+15T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+15T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+15T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+15T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+15T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+15T>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+15T>C
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

9-115030315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030315
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030315
    reference: chr 9
allele count: 1
allele frequency: 8.486803021301875e-6
allele num: 117830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+14A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+14A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+14A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+14A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+14A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+14A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+14A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

9-115030317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030317
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030317
    reference: chr 9
allele count: 3
allele frequency: 2.539833048307624e-5
allele num: 118118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+12A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+12A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+12A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+12A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+12A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+12A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+12A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21517
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-115030318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030318
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030318
    reference: chr 9
allele count: 1
allele frequency: 8.456516591685553e-6
allele num: 118252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.453+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.444+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.453+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.351+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.435+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.150+11A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.224+11A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

9-115030337-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030337
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030337
    reference: chr 9
allele count: 3
allele frequency: 2.488676521825693e-5
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.343A>C
  hgvsp: ENSP00000363375.1:p.Asn115His
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.216A>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.427A>C
  hgvsp: ENSP00000363373.2:p.Asn143His
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.436A>C
  hgvsp: ENSP00000334499.6:p.Asn146His
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.445A>C
  hgvsp: ENSP00000414921.1:p.Asn149His
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.142A>C
  hgvsp: ENSP00000340705.2:p.Asn48His
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.445A>C
  hgvsp: ENSP00000210227.4:p.Asn149His
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn149His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

9-115030344-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030344
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030344
    reference: chr 9
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.429T>A
  hgvsp: ENSP00000334499.6:p.Asn143Lys
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.438T>A
  hgvsp: ENSP00000210227.4:p.Asn146Lys
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.135T>A
  hgvsp: ENSP00000340705.2:p.Asn45Lys
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.209T>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.336T>A
  hgvsp: ENSP00000363375.1:p.Asn112Lys
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.420T>A
  hgvsp: ENSP00000363373.2:p.Asn140Lys
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.438T>A
  hgvsp: ENSP00000414921.1:p.Asn146Lys
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn146Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-115030345-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030345
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030345
    reference: chr 9
allele count: 6
allele frequency: 4.961301845604287e-5
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.437A>G
  hgvsp: ENSP00000414921.1:p.Asn146Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.428A>G
  hgvsp: ENSP00000334499.6:p.Asn143Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.419A>G
  hgvsp: ENSP00000363373.2:p.Asn140Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.335A>G
  hgvsp: ENSP00000363375.1:p.Asn112Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.437A>G
  hgvsp: ENSP00000210227.4:p.Asn146Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.208A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.134A>G
  hgvsp: ENSP00000340705.2:p.Asn45Ser
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn146Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

9-115030347-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030347
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030347
    reference: chr 9
allele count: 3
allele frequency: 2.479461791493793e-5
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.435C>A
  hgvsp: ENSP00000210227.4:p.Asp145Glu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.206C>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.333C>A
  hgvsp: ENSP00000363375.1:p.Asp111Glu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.426C>A
  hgvsp: ENSP00000334499.6:p.Asp142Glu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.132C>A
  hgvsp: ENSP00000340705.2:p.Asp44Glu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.435C>A
  hgvsp: ENSP00000414921.1:p.Asp145Glu
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.417C>A
  hgvsp: ENSP00000363373.2:p.Asp139Glu
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20696
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42701
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp145Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

9-115030355-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030355
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030355
    reference: chr 9
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.124A>C
  hgvsp: ENSP00000340705.2:p.Lys42Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.427A>C
  hgvsp: ENSP00000210227.4:p.Lys143Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.427A>C
  hgvsp: ENSP00000414921.1:p.Lys143Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.418A>C
  hgvsp: ENSP00000334499.6:p.Lys140Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.409A>C
  hgvsp: ENSP00000363373.2:p.Lys137Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.198A>C
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.325A>C
  hgvsp: ENSP00000363375.1:p.Lys109Gln
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys143Gln
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: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-115030356-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030356
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030356
    reference: chr 9
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.408T>G
  hgvsp: ENST00000374255.2:c.408T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.197T>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.426T>G
  hgvsp: ENST00000458258.1:c.426T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.417T>G
  hgvsp: ENST00000334318.6:c.417T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.426T>G
  hgvsp: ENST00000210227.4:c.426T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.123T>G
  hgvsp: ENST00000343327.2:c.123T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.324T>G
  hgvsp: ENST00000374257.1:c.324T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu142Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

9-115030369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030369
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030369
    reference: chr 9
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.110A>G
  hgvsp: ENSP00000340705.2:p.Asn37Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.413A>G
  hgvsp: ENSP00000414921.1:p.Asn138Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.404A>G
  hgvsp: ENSP00000334499.6:p.Asn135Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.184A>G
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.395A>G
  hgvsp: ENSP00000363373.2:p.Asn132Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.311A>G
  hgvsp: ENSP00000363375.1:p.Asn104Ser
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.413A>G
  hgvsp: ENSP00000210227.4:p.Asn138Ser
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn138Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

9-115030372-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030372
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030372
    reference: chr 9
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.392C>A
  hgvsp: ENSP00000363373.2:p.Ser131Tyr
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.410C>A
  hgvsp: ENSP00000414921.1:p.Ser137Tyr
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.308C>A
  hgvsp: ENSP00000363375.1:p.Ser103Tyr
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.181C>A
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.107C>A
  hgvsp: ENSP00000340705.2:p.Ser36Tyr
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.410C>A
  hgvsp: ENSP00000210227.4:p.Ser137Tyr
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.401C>A
  hgvsp: ENSP00000334499.6:p.Ser134Tyr
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42995
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser137Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

9-115030399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030399
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030399
    reference: chr 9
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.374G>A
  hgvsp: ENSP00000334499.6:p.Arg125Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.80G>A
  hgvsp: ENSP00000340705.2:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.365G>A
  hgvsp: ENSP00000363373.2:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.281G>A
  hgvsp: ENSP00000363375.1:p.Arg94Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.383G>A
  hgvsp: ENSP00000414921.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.383G>A
  hgvsp: ENSP00000210227.4:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.154G>A
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg128Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

9-115030405-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030405
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030405
    reference: chr 9
allele count: 23
allele frequency: 1.896094046264695e-4
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.359A>G
  hgvsp: ENSP00000363373.2:p.His120Arg
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000210227
  ensembl transcript: ENST00000210227
  gene symbol: PTBP3
  hgvsc: ENST00000210227.4:c.377A>G
  hgvsp: ENSP00000210227.4:p.His126Arg
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000414921
  ensembl transcript: ENST00000458258
  gene symbol: PTBP3
  hgvsc: ENST00000458258.1:c.377A>G
  hgvsp: ENSP00000414921.1:p.His126Arg
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.368A>G
  hgvsp: ENSP00000334499.6:p.His123Arg
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.275A>G
  hgvsp: ENSP00000363375.1:p.His92Arg
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000340705
  ensembl transcript: ENST00000343327
  gene symbol: PTBP3
  hgvsc: ENST00000343327.2:c.74A>G
  hgvsp: ENSP00000340705.2:p.His25Arg
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000119314
  ensembl transcript: ENST00000487997
  gene symbol: PTBP3
  hgvsc: ENST00000487997.1:n.148A>G
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His126Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

9-115030410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 115030410
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 115030410
    reference: chr 9
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363375
  ensembl transcript: ENST00000374257
  gene symbol: PTBP3
  hgvsc: ENST00000374257.1:c.270T>C
  hgvsp: ENST00000374257.1:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000363373
  ensembl transcript: ENST00000374255
  gene symbol: PTBP3
  hgvsc: ENST00000374255.2:c.354T>C
  hgvsp: ENST00000374255.2:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119314
  ensembl protein: ENSP00000334499
  ensembl transcript: ENST00000334318
  gene symbol: PTBP3
  hgvsc: ENST00000334318.6:c.363T>C
  hgvsp: ENST00000334318.6:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10253
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Thr124Thr
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 843
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63700
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.500312539067384e-4
allele num: 15998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.588778e6

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.202e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

GenotypeQuality
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 227
allele frequency: 2.821277653492419e-2
allele num: 8046
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61390
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.279881217520415e-5
allele num: 10776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.348400203148807e-4
allele num: 15752
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.508657e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.854e0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34190
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.371049949031601e-5
allele num: 15696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60880
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.401e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.882e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

DP
type: SiteQuality
SIO_000300: 1.482284e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

GenotypeQuality
all individuals: 197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10688
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.275835672365399e-4
allele num: 15676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.167e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.343e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.482034e6

GenotypeQuality
all individuals: 2457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.504488096786782e-5
allele num: 15374
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58930
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.367342e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.866e1

QD
type: SiteQuality
SIO_000300: 1.22e1

FS
type: SiteQuality
SIO_000300: 6.185e0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.147e0

VQSLOD
type: SiteQuality
SIO_000300: -1.219e0

GenotypeQuality
all individuals: 715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58266
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.469e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.38e0

DP
type: SiteQuality
SIO_000300: 1.312589e6

GenotypeQuality
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 484
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.352447930754666e-4
allele num: 7394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.363e0

VQSLOD
type: SiteQuality
SIO_000300: -3.523e0

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.014e0

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

DP
type: SiteQuality
SIO_000300: 1.257707e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

GenotypeQuality
all individuals: 2453
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 598
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1336
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GenotypeQuality
all individuals: 659
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.773238287761109e-5
allele num: 56394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7298
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 7.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.22843e6

MQRankSum
type: SiteQuality
SIO_000300: -1.867e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.432e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7665
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.703155088135091e-5
allele num: 54008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14598
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.131769e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

QD
type: SiteQuality
SIO_000300: 1.622e1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 186
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variant carriers: 1

GenotypeQuality
all individuals: 5836
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1913
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variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.999860002799944e-4
allele num: 14286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

DP
type: SiteQuality
SIO_000300: 1.090778e6

QD
type: SiteQuality
SIO_000300: 1.518e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeQuality
all individuals: 1974
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24848
bin: 9.75e1
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GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523182842868458e-5
allele num: 65652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 5.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.874e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.349e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 2.194909e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.087690407575134e-4
allele num: 9716
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 125
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-5
allele num: 65740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

DP
type: SiteQuality
SIO_000300: 2.205817e6

FS
type: SiteQuality
SIO_000300: 1.849e0

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1987
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variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.207855e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.474e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.304e0

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1835
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.225991009399264e-3
allele num: 9788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.478e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

DP
type: SiteQuality
SIO_000300: 2.209421e6

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 1839
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.208e0

DP
type: SiteQuality
SIO_000300: 2.210197e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

MQRankSum
type: SiteQuality
SIO_000300: -1.624e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 2.198e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.97e1

GenotypeQuality
all individuals: 16401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3206
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 2.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 3.412e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 2.213845e6

GenotypeQuality
all individuals: 42560
bin: 9.75e1
variant carriers: 42132

GenotypeQuality
all individuals: 589
bin: 7.25e1
variant carriers: 85

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 74

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 40

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 99

South Asian
type: Population
allele count: 8055
allele frequency: 4.889522884545344e-1
allele num: 16474
num of homozygotes: 2091

African
type: Population
allele count: 8346
allele frequency: 8.139262726740784e-1
allele num: 10254
num of homozygotes: 3395

Other
type: Population
allele count: 424
allele frequency: 4.669603524229075e-1
allele num: 908
num of homozygotes: 98

European (Non-Finnish)
type: Population
allele count: 30860
allele frequency: 4.658535112613972e-1
allele num: 66244
num of homozygotes: 7198

European (Finnish)
type: Population
allele count: 2612
allele frequency: 3.964784456587735e-1
allele num: 6588
num of homozygotes: 516

Latino
type: Population
allele count: 4822
allele frequency: 4.190856944203025e-1
allele num: 11506
num of homozygotes: 1025

East Asian
type: Population
allele count: 3114
allele frequency: 3.652357494722027e-1
allele num: 8526
num of homozygotes: 540

DP
type: SiteQuality
SIO_000300: 3.529767e6

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.51e-2

FS
type: SiteQuality
SIO_000300: 1.348e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.51e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

QD
type: SiteQuality
SIO_000300: 1.955e1

GenotypeQuality
all individuals: 386
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.36e-1

DP
type: SiteQuality
SIO_000300: 1.736477e6

MQ
type: SiteQuality
SIO_000300: 5.849e1

VQSLOD
type: SiteQuality
SIO_000300: -3.116e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 386
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.736497e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 6.979e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -4.01e-2

QD
type: SiteQuality
SIO_000300: 1.45e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.51e-1

GenotypeQuality
all individuals: 385
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8067
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

DP
type: SiteQuality
SIO_000300: 1.737244e6

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

FS
type: SiteQuality
SIO_000300: 6.613e0

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.158e-1

DP
type: SiteQuality
SIO_000300: 1.742985e6

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.76e0

FS
type: SiteQuality
SIO_000300: 1.2655e1

DP
type: SiteQuality
SIO_000300: 1.743082e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

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

GenotypeQuality
all individuals: 235
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.033244358165494e-4
allele num: 16484
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.514e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-1

DP
type: SiteQuality
SIO_000300: 1.744259e6

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

FS
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8078
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.744573e6

QD
type: SiteQuality
SIO_000300: 1.525e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

FS
type: SiteQuality
SIO_000300: 1.878e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003995313767311e-5
allele num: 66578
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 3.929e0

MQRankSum
type: SiteQuality
SIO_000300: 8.86e-1

DP
type: SiteQuality
SIO_000300: 1.745134e6

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.303e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

GenotypeQuality
all individuals: 2219
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.792e0

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 1.745438e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

FS
type: SiteQuality
SIO_000300: 1.435e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

FS
type: SiteQuality
SIO_000300: 1.435e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.792e0

DP
type: SiteQuality
SIO_000300: 1.745438e6

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

QD
type: SiteQuality
SIO_000300: 1.171e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

GenotypeQuality
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bin: 6.25e1
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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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

DP
type: SiteQuality
SIO_000300: 1.745185e6

FS
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.688e1

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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variant carriers: 0

GenotypeQuality
all individuals: 383
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 4.047802621434078e-3
allele num: 10376
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.745809e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44777
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200732446792543e-4
allele num: 66626
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

DP
type: SiteQuality
SIO_000300: 1.74354e6

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 866
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002011347602894e-5
allele num: 66622
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 1.805e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.226e0

DP
type: SiteQuality
SIO_000300: 1.743074e6

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
all individuals: 48
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
num of homozygotes: 1

African
type: Population
allele count: 4
allele frequency: 3.855050115651503e-4
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.757149781871062e-3
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 675
allele frequency: 7.85248953001396e-2
allele num: 8596
num of homozygotes: 18

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.006304413089163e-5
allele num: 66620
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.341e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 1.747437e6

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.711674e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.77e-2

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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.006366748753679e-5
allele num: 66596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.424536307431204e-4
allele num: 16498
num of homozygotes: 0

African
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East Asian
type: Population
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allele frequency: 2.327746741154562e-4
allele num: 8592
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Other
type: Population
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FS
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.711453e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-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
all individuals: 412
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GenotypeQuality
all individuals: 8095
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South Asian
type: Population
allele count: 4
allele frequency: 2.429838415745353e-4
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008604609182261e-5
allele num: 66476
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737317581653926e-4
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
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African
type: Population
allele count: 36
allele frequency: 3.472222222222222e-3
allele num: 10368
num of homozygotes: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

DP
type: SiteQuality
SIO_000300: 1.705956e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 1.271e0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

GenotypeQuality
all individuals: 8079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.424778761061947e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.571168988491823e-4
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.691117677733357e-4
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 121
allele frequency: 1.820972790753672e-3
allele num: 66448
num of homozygotes: 0

South Asian
type: Population
allele count: 119
allele frequency: 7.232283943114136e-3
allele num: 16454
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

FS
type: SiteQuality
SIO_000300: 6.25e-1

DP
type: SiteQuality
SIO_000300: 1.706552e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.429e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 838
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variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515488124266233e-5
allele num: 66438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 1.697147e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.513e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 352
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GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 1790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
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variant carriers: 3

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011413256241154e-5
allele num: 66414
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

FS
type: SiteQuality
SIO_000300: 7.063e0

QD
type: SiteQuality
SIO_000300: 1.438e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.696171e6

GenotypeQuality
all individuals: 338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
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GenotypeQuality
all individuals: 953
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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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variant carriers: 0

GenotypeQuality
all individuals: 290
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50993537476596e-5
allele num: 66228
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.717e1

MQRankSum
type: SiteQuality
SIO_000300: -5.44e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

VQSLOD
type: SiteQuality
SIO_000300: -5.770999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

FS
type: SiteQuality
SIO_000300: 3.481e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.683925e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 7920
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variant carriers: 0

GenotypeQuality
all individuals: 1204
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variant carriers: 2

GenotypeQuality
all individuals: 1660
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variant carriers: 0

GenotypeQuality
all individuals: 44902
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variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025169409486931e-5
allele num: 66112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.694e0

FS
type: SiteQuality
SIO_000300: 1.4831e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 1.679095e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.194e0

QD
type: SiteQuality
SIO_000300: 8.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
all individuals: 252
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GenotypeQuality
all individuals: 140
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GenotypeQuality
all individuals: 1487
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variant carriers: 0

GenotypeQuality
all individuals: 229
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GenotypeQuality
all individuals: 1167
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GenotypeQuality
all individuals: 7260
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GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 42917
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variant carriers: 0

GenotypeQuality
all individuals: 686
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variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.2672348959639e-5
allele num: 15956
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.632005e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

FS
type: SiteQuality
SIO_000300: 3.969e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

QD
type: SiteQuality
SIO_000300: 1.253e1

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1167
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 351
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GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 7260
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.001401962747847e-4
allele num: 9986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65308
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

QD
type: SiteQuality
SIO_000300: 1.253e1

FS
type: SiteQuality
SIO_000300: 3.969e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.632005e6

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
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GenotypeQuality
all individuals: 3025
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.192179303767287e-4
allele num: 8388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 1.632005e6

FS
type: SiteQuality
SIO_000300: 3.969e0

QD
type: SiteQuality
SIO_000300: 1.253e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

GenotypeQuality
all individuals: 41174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 174
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 631
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GenotypeQuality
all individuals: 1370
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.472e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.701e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.571e-1

FS
type: SiteQuality
SIO_000300: 1.856e0

DP
type: SiteQuality
SIO_000300: 1.586425e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e0

GenotypeQuality
all individuals: 802
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62610
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.206407659731172e-5
allele num: 10862
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15042
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.021e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 1.505e0

DP
type: SiteQuality
SIO_000300: 1.372861e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
SIO_000300: 1.973e1

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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bin: 3.75e1
variant carriers: 0

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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.27420998980632e-4
allele num: 7848
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 5.678e1

MQRankSum
type: SiteQuality
SIO_000300: -1.932e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.21388e6

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.64446637066272e-5
allele num: 60810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.025e0

VQSLOD
type: SiteQuality
SIO_000300: -1.525e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.387e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.1295e6

GenotypeQuality
all individuals: 13745
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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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59048
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.192661891536325e-4
allele num: 13682
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.350454788657035e-4
allele num: 7476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.814e0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.319e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

DP
type: SiteQuality
SIO_000300: 1.060737e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 436
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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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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.561003420752565e-4
allele num: 8770
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.869719699960521e-5
allele num: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.825006825006825e-5
allele num: 58608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.582000000000001e0

DP
type: SiteQuality
SIO_000300: 1.049803e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

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
all individuals: 3921
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.958175662218681e-5
allele num: 10042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.447e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.468e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 5.695e1

DP
type: SiteQuality
SIO_000300: 1.031595e6

GenotypeQuality
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bin: 9.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.76772140710624e-5
allele num: 56570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

QD
type: SiteQuality
SIO_000300: 3.011e1

VQSLOD
type: SiteQuality
SIO_000300: -2.695e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

DP
type: SiteQuality
SIO_000300: 1.01643e6

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.206854936036688e-4
allele num: 8286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.011156e6

MQRankSum
type: SiteQuality
SIO_000300: -1.034e0

VQSLOD
type: SiteQuality
SIO_000300: -2.29e0

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
all individuals: 1737
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GenotypeQuality
all individuals: 1305
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.87406015037594e-4
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64876
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.651024e6

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.076e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 750
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 511
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 1282
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GenotypeQuality
all individuals: 1714
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 27
allele frequency: 2.047005307050796e-3
allele num: 13190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 1.67503e6

FS
type: SiteQuality
SIO_000300: 2.499e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

GenotypeQuality
all individuals: 1721
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1614
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2482
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.069744597249509e-5
allele num: 65152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13422
num of homozygotes: 0

African
type: Population
allele count: 291
allele frequency: 2.832943925233645e-2
allele num: 10272
num of homozygotes: 5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 22
allele frequency: 1.921397379912664e-3
allele num: 11450
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.693446e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

QD
type: SiteQuality
SIO_000300: 1.555e1

GenotypeQuality
all individuals: 1252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 1550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6466
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variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.459346561241235e-5
allele num: 13406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

MQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.828e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.690513e6

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1078
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1732
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37453
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.275902211874272e-5
allele num: 13744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -2.425e0

DP
type: SiteQuality
SIO_000300: 1.711029e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 39085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4308
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variant carriers: 1

GenotypeQuality
all individuals: 1267
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14174
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-5
allele num: 65680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.338e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e0

QD
type: SiteQuality
SIO_000300: 1.496e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.195e0

DP
type: SiteQuality
SIO_000300: 1.72801e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 192
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variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
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variant carriers: 0

GenotypeQuality
all individuals: 462
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14228
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5220700152207e-5
allele num: 65700
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.729533e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 2088
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 6614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
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variant carriers: 0

GenotypeQuality
all individuals: 413
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variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 170
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variant carriers: 0

GenotypeQuality
all individuals: 39546
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variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.081598667776853e-4
allele num: 14412
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.194e1

DP
type: SiteQuality
SIO_000300: 1.734259e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.543e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
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variant carriers: 0

GenotypeQuality
all individuals: 4307
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 2096
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variant carriers: 0

GenotypeQuality
all individuals: 502
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14500
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519387383007172e-5
allele num: 65816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -1.545e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.6e0

DP
type: SiteQuality
SIO_000300: 1.736336e6

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.11e-1

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1265
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6764
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variant carriers: 0

GenotypeQuality
all individuals: 42384
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16026
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.283e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 3.804e0

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

DP
type: SiteQuality
SIO_000300: 1.770137e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

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

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 42645
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 277
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

GenotypeQuality
all individuals: 728
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variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 1.774704e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 9.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.078e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -7.630000000000001e-2

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4312
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 503
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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: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
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variant carriers: 0

GenotypeQuality
all individuals: 728
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.019030153624147e-5
allele num: 66526
num of homozygotes: 0

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

ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.522e0

ClippingRankSum
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DP
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QD
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.838235294117647e-4
allele num: 16320
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.726e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

DP
type: SiteQuality
SIO_000300: 1.775602e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

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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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

QD
type: SiteQuality
SIO_000300: 1.431e1

DP
type: SiteQuality
SIO_000300: 1.778024e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.279e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

FS
type: SiteQuality
SIO_000300: 1.2177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

QD
type: SiteQuality
SIO_000300: 1.56e1

VQSLOD
type: SiteQuality
SIO_000300: -1.389e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 1.778242e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 6845
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: -6.608000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.393e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.780217e6

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.526999999999999e0

QD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

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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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
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African
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allele count: 0
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allele num: 10406
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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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variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 8.999280057595392e-5
allele num: 66672
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 1.103752759381898e-3
allele num: 906
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Latino
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allele frequency: 1.296008294453084e-3
allele num: 11574
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South Asian
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African
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allele num: 10404
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East Asian
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allele frequency: 0.0e0
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FS
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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