11-4674632-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674632
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674632
    reference: chr 11
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.206T>A
  hgvsp: ENSP00000431593.1:p.Leu69Ter
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.876T>A
  hgvsp: ENST00000396952.5:c.876T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15194
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10773
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu69Ter
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.637070305752289e-5
  allele num: 11578
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

11-4674637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674637
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674637
    reference: chr 11
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.881A>G
  hgvsp: ENSP00000380155.5:p.Tyr294Cys
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.211A>G
  hgvsp: ENSP00000431593.1:p.Met71Val
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10773
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr294Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

11-4674652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674652
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674652
    reference: chr 11
allele count: 549
allele frequency: 4.532994253253187e-3
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.896A>G
  hgvsp: ENSP00000380155.5:p.Lys299Arg
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*7A>G
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19482
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15740
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 466
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 546
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2873
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys299Arg
num of homozygotes: 3
population: Latino
  type: Population
  allele count: 48
  allele frequency: 4.14651002073255e-3
  allele num: 11576
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

11-4674660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674660
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674660
    reference: chr 11
allele count: 5
allele frequency: 4.138593209396262e-5
allele num: 120814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.904C>T
  hgvsp: ENSP00000380155.5:p.Arg302Ter
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2396
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 5037
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 517
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genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 7909
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1816
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4093
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg302Ter
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

11-4674661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674661
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674661
    reference: chr 11
allele count: 6
allele frequency: 4.967874412134861e-5
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.905G>A
  hgvsp: ENSP00000380155.5:p.Arg302Gln
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7909
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10341
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 24485
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg302Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16288
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

11-4674663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674663
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674663
    reference: chr 11
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.907C>T
  hgvsp: ENSP00000380155.5:p.Gln303Ter
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 7985
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln303Ter
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

11-4674664-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674664
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674664
    reference: chr 11
allele count: 4
allele frequency: 3.316089667064597e-5
allele num: 120624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*19A>G
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.908A>G
  hgvsp: ENSP00000380155.5:p.Gln303Arg
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln303Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-4674666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674666
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674666
    reference: chr 11
allele count: 4
allele frequency: 3.326790645064706e-5
allele num: 120236
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.910C>T
  hgvsp: ENSP00000380155.5:p.Arg304Cys
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 129
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg304Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.737098344693281e-5
  allele num: 10270
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

11-4674667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674667
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674667
    reference: chr 11
allele count: 3
allele frequency: 2.494761001896018e-5
allele num: 120252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.911G>A
  hgvsp: ENSP00000380155.5:p.Arg304His
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10318
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg304His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-4674675-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674675
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674675
    reference: chr 11
allele count: 4
allele frequency: 3.340906053721769e-5
allele num: 119728
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.919C>T
  hgvsp: ENSP00000380155.5:p.Arg307Ter
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18871
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10316
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 23537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg307Ter
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-4674676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674676
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674676
    reference: chr 11
allele count: 1
allele frequency: 8.354777261638205e-6
allele num: 119692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*31G>A
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.920G>A
  hgvsp: ENSP00000380155.5:p.Arg307Gln
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg307Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.157407407407407e-4
  allele num: 8640
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

11-4674685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674685
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674685
    reference: chr 11
allele count: 1
allele frequency: 8.417225009258947e-6
allele num: 118804
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.929A>G
  hgvsp: ENSP00000380155.5:p.His310Arg
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*40A>G
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 15092
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 1303
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 75
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genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2889
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4080
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1808
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3115
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genotype quality: GenotypeQuality
  all individuals: 10310
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His310Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11556
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

11-4674686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674686
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674686
    reference: chr 11
allele count: 1
allele frequency: 8.417650128790047e-6
allele num: 118798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*41T>C
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.930T>C
  hgvsp: ENST00000396952.5:c.930T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 700
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His310His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.547930853850184e-5
  allele num: 15272
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-4674698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674698
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674698
    reference: chr 11
allele count: 10
allele frequency: 8.570155291213877e-5
allele num: 116684
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.942C>T
  hgvsp: ENST00000396952.5:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*53C>T
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21072
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His314His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 874
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-4674699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674699
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674699
    reference: chr 11
allele count: 2
allele frequency: 1.713942925700574e-5
allele num: 116690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*54G>A
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.943G>A
  hgvsp: ENSP00000380155.5:p.Ala315Thr
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala315Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.539645881447267e-5
  allele num: 64950
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

11-4674707-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674707
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674707
    reference: chr 11
allele count: 3
allele frequency: 2.593271325334532e-5
allele num: 115684
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.951G>A
  hgvsp: ENST00000396952.5:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*62G>A
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4896
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  variant carriers: 0
hgvs: p.Glu317Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/11-4674708-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674708
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674708
    reference: chr 11
allele count: 1
allele frequency: 8.671673112610347e-6
allele num: 115318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.952C>A
  hgvsp: ENSP00000380155.5:p.Pro318Thr
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*63C>A
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro318Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 868
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-4674717-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674717
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674717
    reference: chr 11
allele count: 2
allele frequency: 1.752510471250066e-5
allele num: 114122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*72T>A
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.*4T>A
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10290
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4048
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.556420233463035e-4
  allele num: 12850
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-4674741-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674741
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674741
    reference: chr 11
allele count: 4
allele frequency: 3.631609529343405e-5
allele num: 110144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.*28T>A
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*96T>A
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10271
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 4
  allele frequency: 3.612064294744447e-4
  allele num: 11074
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-4674742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674742
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674742
    reference: chr 11
allele count: 1
allele frequency: 9.085292728131701e-6
allele num: 110068
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.*29C>T
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*97C>T
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1782
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.090750436300175e-4
  allele num: 9168
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

11-4674764-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4674764
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4674764
    reference: chr 11
allele count: 1209
allele frequency: 1.135232586527446e-2
allele num: 106498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000431593
  ensembl transcript: ENST00000530215
  gene symbol: OR51E1
  hgvsc: ENST00000530215.1:c.*119T>A
  variant of: http://identifiers.org/hgnc/15194
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000180785
  ensembl protein: ENSP00000380155
  ensembl transcript: ENST00000396952
  gene symbol: OR51E1
  hgvsc: ENST00000396952.5:c.*51T>A
  variant of: http://identifiers.org/hgnc/15194
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3822
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  variant carriers: 4
num of homozygotes: 9
population: Other
  type: Population
  allele count: 7
  allele frequency: 8.728179551122194e-3
  allele num: 802
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

11-4702934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4702934
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4702934
    reference: chr 11
allele count: 1
allele frequency: 8.348220994106157e-6
allele num: 119786
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167332
  ensembl protein: ENSP00000380153
  ensembl transcript: ENST00000396950
  gene symbol: OR51E2
  hgvsc: ENST00000396950.3:c.*45A>G
  variant of: http://identifiers.org/hgnc/15195
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15484
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

11-4702935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4702935
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4702935
    reference: chr 11
allele count: 2
allele frequency: 1.670648378635748e-5
allele num: 119714
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167332
  ensembl protein: ENSP00000380153
  ensembl transcript: ENST00000396950
  gene symbol: OR51E2
  hgvsc: ENST00000396950.3:c.*44C>T
  variant of: http://identifiers.org/hgnc/15195
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39496
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8628
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6600
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

11-4702936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4702936
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4702936
    reference: chr 11
allele count: 2
allele frequency: 1.669644198821231e-5
allele num: 119786
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167332
  ensembl protein: ENSP00000380153
  ensembl transcript: ENST00000396950
  gene symbol: OR51E2
  hgvsc: ENST00000396950.3:c.*43A>G
  variant of: http://identifiers.org/hgnc/15195
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1752
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genotype quality: GenotypeQuality
  all individuals: 39519
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66224
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

11-4702940-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 4702940
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 4702940
    reference: chr 11
allele count: 2
allele frequency: 1.66956057165754e-5
allele num: 119792
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000167332
  ensembl protein: ENSP00000380153
  ensembl transcript: ENST00000396950
  gene symbol: OR51E2
  hgvsc: ENST00000396950.3:c.*39A>T
  variant of: http://identifiers.org/hgnc/15195
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 39480
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11568
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.020235578375113e-5
  allele num: 66220
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6572
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

16-72188329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188329
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188329
    reference: chr 16
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.195C>T
  hgvsp: ENST00000537465.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.195C>T
  hgvsp: ENST00000536211.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.195C>T
  hgvsp: ENST00000237353.10:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.421C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.195C>T
  hgvsp: ENST00000535461.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.195C>T
  hgvsp: ENST00000539172.1:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*5C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-241C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe65Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

16-72188332-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188332
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188332
    reference: chr 16
allele count: 19
allele frequency: 1.565357807839971e-4
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.192A>G
  hgvsp: ENST00000536211.1:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.192A>G
  hgvsp: ENST00000537465.1:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-244A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.*2A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.192A>G
  hgvsp: ENST00000535461.1:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.192A>G
  hgvsp: ENST00000539172.1:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.192A>G
  hgvsp: ENST00000237353.10:c.192A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.418A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala64Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

16-72188339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188339
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188339
    reference: chr 16
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-251C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.185C>T
  hgvsp: ENSP00000237353.10:p.Ala62Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.185C>T
  hgvsp: ENSP00000444953.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.301C>T
  hgvsp: ENSP00000368364.5:p.His101Tyr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.185C>T
  hgvsp: ENSP00000439841.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.185C>T
  hgvsp: ENSP00000440941.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.185C>T
  hgvsp: ENSP00000443817.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.411C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala62Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-72188340-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188340
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188340
    reference: chr 16
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.300G>C
  hgvsp: ENSP00000368364.5:p.Arg100Ser
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-252G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.184G>C
  hgvsp: ENSP00000444953.1:p.Ala62Pro
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.184G>C
  hgvsp: ENSP00000440941.1:p.Ala62Pro
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.184G>C
  hgvsp: ENSP00000443817.1:p.Ala62Pro
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.184G>C
  hgvsp: ENSP00000237353.10:p.Ala62Pro
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.410G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.184G>C
  hgvsp: ENSP00000439841.1:p.Ala62Pro
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala62Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-72188341-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188341
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188341
    reference: chr 16
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.409G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.299G>T
  hgvsp: ENSP00000368364.5:p.Arg100Met
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.183G>T
  hgvsp: ENSP00000444953.1:p.Gln61His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.183G>T
  hgvsp: ENSP00000443817.1:p.Gln61His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.183G>T
  hgvsp: ENSP00000440941.1:p.Gln61His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.183G>T
  hgvsp: ENSP00000439841.1:p.Gln61His
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-253G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.183G>T
  hgvsp: ENSP00000237353.10:p.Gln61His
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln61His
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

16-72188359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188359
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188359
    reference: chr 16
allele count: 2
allele frequency: 1.650900566258894e-5
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-1G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 9.25e1
  variant carriers: 0
hgvs: c.166-1G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

16-72188359-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188359
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188359
    reference: chr 16
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-1G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-1G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-1G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-1G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-1G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-1G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-1G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-1G>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
hgvs: c.166-1G>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

16-72188364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188364
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188364
    reference: chr 16
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-6T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-6T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-6T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-6T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-6T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-6T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-6T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-6T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40612
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
hgvs: c.166-6T>C
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

16-72188366-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188366
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188366
    reference: chr 16
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-8T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-8T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-8T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-8T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-8T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-8T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-8T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-8T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: c.166-8T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

16-72188371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188371
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188371
    reference: chr 16
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-13G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-13G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-13G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-13G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-13G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-13G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-13G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-13G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

16-72188373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188373
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188373
    reference: chr 16
allele count: 2
allele frequency: 1.656232402530723e-5
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-15C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-15C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-15C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-15C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-15C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-15C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-15C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-15C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40611
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

16-72188376-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188376
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188376
    reference: chr 16
allele count: 2384
allele frequency: 1.975308641975309e-2
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-18A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-18A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 5.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 6.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.25e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 9.75e1
  variant carriers: 793
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 6.25e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 2.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 5.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 8.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40982
  bin: 9.75e1
  variant carriers: 2328
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 44
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

16-72188388-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188388
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188388
    reference: chr 16
allele count: 10
allele frequency: 8.306061763875276e-5
allele num: 120394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-30C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-30C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-30C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-30C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-30C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-30C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-30C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-30C>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40166
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-72188390-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188390
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188390
    reference: chr 16
allele count: 1
allele frequency: 8.310755780130645e-6
allele num: 120326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-32A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-32A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-32A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-32A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-32A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-32A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-32A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-32A>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

16-72188392-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188392
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188392
    reference: chr 16
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-34A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-34A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-34A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-34A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-34A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-34A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-34A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-34A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/16-72188397-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188397
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188397
    reference: chr 16
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-39G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-39G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-39G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-39G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-39G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-39G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-39G>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-39G>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

16-72188403-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188403
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188403
    reference: chr 16
allele count: 3
allele frequency: 2.509578223553228e-5
allele num: 119542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-45A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-45A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-45A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-45A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-45A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-45A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-45A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-45A>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-72188405-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188405
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188405
    reference: chr 16
allele count: 1
allele frequency: 8.36946150884652e-6
allele num: 119482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-47T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-47T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-47T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-47T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-47T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-47T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-47T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-47T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-72188407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188407
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188407
    reference: chr 16
allele count: 2
allele frequency: 1.677176975714477e-5
allele num: 119248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-49C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-49C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-49C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-49C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-49C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-49C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-49C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-49C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-72188409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188409
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188409
    reference: chr 16
allele count: 2
allele frequency: 1.684210526315789e-5
allele num: 118750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-51G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-51G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-51G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-51G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-51G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-51G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-51G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-51G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-72188410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72188410
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72188410
    reference: chr 16
allele count: 1
allele frequency: 8.417225009258947e-6
allele num: 118804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.166-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-270-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.166-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.282-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.392-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.166-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.166-52C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.166-52C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

16-72198253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198253
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198253
    reference: chr 16
allele count: 1
allele frequency: 9.393199323689649e-5
allele num: 10646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+410G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.281+17G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+410G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+410G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+410G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+410G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.391+17G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-271+17G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

16-72198257-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198257
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198257
    reference: chr 16
allele count: 1
allele frequency: 9.361542782250516e-5
allele num: 10682
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+406A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+406A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.391+13A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+406A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+406A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.281+13A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+406A>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-271+13A>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

16-72198331-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198331
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198331
    reference: chr 16
allele count: 1
allele frequency: 9.041591320072333e-5
allele num: 11060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.220A>G
  hgvsp: ENSP00000368364.5:p.Met74Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-332A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+332A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+332A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+332A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.330A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+332A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+332A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5543
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Met74Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-72198338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198338
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198338
    reference: chr 16
allele count: 2
allele frequency: 1.804728388377549e-4
allele num: 11082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+325G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+325G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-339G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.213G>A
  hgvsp: ENST00000379073.5:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+325G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+325G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.323G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+325G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala71Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

16-72198339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198339
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198339
    reference: chr 16
allele count: 5
allele frequency: 4.510193036261952e-4
allele num: 11086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.212C>T
  hgvsp: ENSP00000368364.5:p.Ala71Val
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+324C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-340C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+324C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+324C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+324C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+324C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.322C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5567
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala71Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

16-72198341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198341
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198341
    reference: chr 16
allele count: 1
allele frequency: 9.009009009009009e-5
allele num: 11100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.320A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+322A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.210A>G
  hgvsp: ENST00000379073.5:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+322A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-342A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+322A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+322A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+322A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala70Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

16-72198343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198343
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198343
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+320G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+320G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+320G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-344G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+320G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.208G>A
  hgvsp: ENSP00000368364.5:p.Ala70Thr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.318G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+320G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala70Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-72198358-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198358
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198358
    reference: chr 16
allele count: 4
allele frequency: 3.566969859104691e-4
allele num: 11214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+305A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.303A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+305A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+305A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-359A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+305A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.193A>G
  hgvsp: ENSP00000368364.5:p.Ser65Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+305A>G
  variant of: http://identifiers.org/hgnc/17728
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser65Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-72198363-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198363
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198363
    reference: chr 16
allele count: 1
allele frequency: 8.884150675195451e-5
allele num: 11256
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+300A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-364A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+300A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.298A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+300A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+300A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+300A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.188A>G
  hgvsp: ENSP00000368364.5:p.Asp63Gly
  variant of: http://identifiers.org/hgnc/17728
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp63Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

16-72198366-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198366
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198366
    reference: chr 16
allele count: 6
allele frequency: 5.321979776476849e-4
allele num: 11274
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+297C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.185C>G
  hgvsp: ENSP00000368364.5:p.Ser62Ter
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+297C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+297C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+297C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+297C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.295C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-367C>G
  variant of: http://identifiers.org/hgnc/17728
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ser62Ter
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

16-72198406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198406
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198406
    reference: chr 16
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+257C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+257C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+257C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-386-21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.276-21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+257C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+257C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.166-21C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

16-72198426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198426
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198426
    reference: chr 16
allele count: 1
allele frequency: 8.483203257550051e-5
allele num: 11788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-386-41C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+237C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+237C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+237C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+237C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.166-41C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+237C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.276-41C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

16-72198433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198433
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198433
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 11864
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+230C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+230C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+230C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-386-48C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+230C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.166-48C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.276-48C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+230C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25709
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

16-72198617-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198617
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198617
    reference: chr 16
allele count: 1
allele frequency: 8.807158458394984e-6
allele num: 113544
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+46T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.275+46T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-387+46T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.165+46T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+46T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+46T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+46T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+46T>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26669
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

16-72198635-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198635
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198635
    reference: chr 16
allele count: 66
allele frequency: 5.794658378549228e-4
allele num: 113898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.165+28C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.275+28C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+28C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+28C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+28C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+28C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-387+28C>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+28C>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21224
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 14518
  bin: 9.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6416
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

16-72198636-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198636
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198636
    reference: chr 16
allele count: 1
allele frequency: 8.777011252128426e-6
allele num: 113934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+27C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+27C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.275+27C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-387+27C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+27C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+27C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+27C>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.165+27C>G
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-72198641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198641
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198641
    reference: chr 16
allele count: 2
allele frequency: 1.753924405858108e-5
allele num: 114030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+22G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+22G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.275+22G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+22G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+22G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+22G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-387+22G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.165+22G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

16-72198642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198642
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198642
    reference: chr 16
allele count: 16303
allele frequency: 1.413228155339806e-1
allele num: 115360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.165+21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-387+21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.275+21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+21C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+21C>T
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 9.75e1
  variant carriers: 5328
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.75e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 2.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 7.5e0
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.25e1
  variant carriers: 740
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.25e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.25e1
  variant carriers: 879
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 3.75e1
  variant carriers: 227
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 535
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 8.75e1
  variant carriers: 856
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 6.25e1
  variant carriers: 768
genotype depth: GenotypeDepth
  all individuals: 21054
  bin: 2.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.75e1
  variant carriers: 843
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.75e1
  variant carriers: 897
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.25e1
  variant carriers: 752
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.25e1
  variant carriers: 864
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 6281
  bin: 6.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 3
num of homozygotes: 1424
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

16-72198662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198662
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198662
    reference: chr 16
allele count: 2
allele frequency: 1.716443529007896e-5
allele num: 116520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165+1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165+1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165+1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165+1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.165+1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165+1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.275+1G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-387+1G>A
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 9.75e1
  variant carriers: 2
hgvs: c.165+1G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

16-72198663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198663
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198663
    reference: chr 16
allele count: 5
allele frequency: 4.283682596254348e-5
allele num: 116722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.275C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.165C>T
  hgvsp: ENST00000535461.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-387C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.165C>T
  hgvsp: ENST00000379073.5:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.165C>T
  hgvsp: ENST00000237353.10:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.165C>T
  hgvsp: ENST00000539172.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.165C>T
  hgvsp: ENST00000536211.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.165C>T
  hgvsp: ENST00000537465.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
hgvs: c.165C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

16-72198665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198665
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198665
    reference: chr 16
allele count: 1
allele frequency: 8.552417768503155e-6
allele num: 116926
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.163C>T
  hgvsp: ENSP00000237353.10:p.His55Tyr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.273C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.163C>T
  hgvsp: ENSP00000444953.1:p.His55Tyr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-389C>T
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.163C>T
  hgvsp: ENSP00000443817.1:p.His55Tyr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.163C>T
  hgvsp: ENSP00000439841.1:p.His55Tyr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.163C>T
  hgvsp: ENSP00000440941.1:p.His55Tyr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.163C>T
  hgvsp: ENSP00000368364.5:p.His55Tyr
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His55Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-72198675-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198675
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198675
    reference: chr 16
allele count: 4
allele frequency: 3.39748925544023e-5
allele num: 117734
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.153G>C
  hgvsp: ENSP00000237353.10:p.Met51Ile
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.153G>C
  hgvsp: ENSP00000440941.1:p.Met51Ile
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.153G>C
  hgvsp: ENSP00000439841.1:p.Met51Ile
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-399G>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.153G>C
  hgvsp: ENSP00000444953.1:p.Met51Ile
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.153G>C
  hgvsp: ENSP00000443817.1:p.Met51Ile
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.153G>C
  hgvsp: ENSP00000368364.5:p.Met51Ile
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.263G>C
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met51Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-72198676-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198676
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198676
    reference: chr 16
allele count: 1
allele frequency: 8.483922965979469e-6
allele num: 117870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-400T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.262T>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.152T>C
  hgvsp: ENSP00000237353.10:p.Met51Thr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.152T>C
  hgvsp: ENSP00000439841.1:p.Met51Thr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.152T>C
  hgvsp: ENSP00000444953.1:p.Met51Thr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.152T>C
  hgvsp: ENSP00000443817.1:p.Met51Thr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.152T>C
  hgvsp: ENSP00000368364.5:p.Met51Thr
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.152T>C
  hgvsp: ENSP00000440941.1:p.Met51Thr
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37456
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met51Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-72198677-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198677
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198677
    reference: chr 16
allele count: 1
allele frequency: 8.47860001356576e-6
allele num: 117944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-401A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.151A>C
  hgvsp: ENSP00000443817.1:p.Met51Leu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.151A>C
  hgvsp: ENSP00000444953.1:p.Met51Leu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.261A>C
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.151A>C
  hgvsp: ENSP00000440941.1:p.Met51Leu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.151A>C
  hgvsp: ENSP00000368364.5:p.Met51Leu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.151A>C
  hgvsp: ENSP00000237353.10:p.Met51Leu
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.151A>C
  hgvsp: ENSP00000439841.1:p.Met51Leu
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met51Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

16-72198678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198678
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198678
    reference: chr 16
allele count: 1
allele frequency: 8.470412847922207e-6
allele num: 118058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.260A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.150A>G
  hgvsp: ENST00000237353.10:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.150A>G
  hgvsp: ENST00000535461.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.150A>G
  hgvsp: ENST00000536211.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.150A>G
  hgvsp: ENST00000379073.5:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-402A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.150A>G
  hgvsp: ENST00000537465.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.150A>G
  hgvsp: ENST00000539172.1:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala50Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

16-72198683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198683
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198683
    reference: chr 16
allele count: 1
allele frequency: 8.430992327796981e-6
allele num: 118610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.145G>A
  hgvsp: ENSP00000440941.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.145G>A
  hgvsp: ENSP00000443817.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.145G>A
  hgvsp: ENSP00000237353.10:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-407G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.145G>A
  hgvsp: ENSP00000444953.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.145G>A
  hgvsp: ENSP00000368364.5:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.255G>A
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.145G>A
  hgvsp: ENSP00000439841.1:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38037
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu49Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-72198685-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 72198685
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 72198685
    reference: chr 16
allele count: 1
allele frequency: 8.415241685741214e-6
allele num: 118832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000444953
  ensembl transcript: ENST00000535461
  gene symbol: PMFBP1
  hgvsc: ENST00000535461.1:c.143A>G
  hgvsp: ENSP00000444953.1:p.Glu48Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000368364
  ensembl transcript: ENST00000379073
  gene symbol: PMFBP1
  hgvsc: ENST00000379073.5:c.143A>G
  hgvsp: ENSP00000368364.5:p.Glu48Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000439841
  ensembl transcript: ENST00000536211
  gene symbol: PMFBP1
  hgvsc: ENST00000536211.1:c.143A>G
  hgvsp: ENSP00000439841.1:p.Glu48Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000118557
  ensembl transcript: ENST00000543746
  gene symbol: PMFBP1
  hgvsc: ENST00000543746.1:n.253A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000237353
  ensembl transcript: ENST00000237353
  gene symbol: PMFBP1
  hgvsc: ENST00000237353.10:c.143A>G
  hgvsp: ENSP00000237353.10:p.Glu48Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000443817
  ensembl transcript: ENST00000537465
  gene symbol: PMFBP1
  hgvsc: ENST00000537465.1:c.143A>G
  hgvsp: ENSP00000443817.1:p.Glu48Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440941
  ensembl transcript: ENST00000539172
  gene symbol: PMFBP1
  hgvsc: ENST00000539172.1:c.143A>G
  hgvsp: ENSP00000440941.1:p.Glu48Gly
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000347854
  ensembl transcript: ENST00000355636
  gene symbol: PMFBP1
  hgvsc: ENST00000355636.6:c.-409A>G
  variant of: http://identifiers.org/hgnc/17728
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000118557
  ensembl protein: ENSP00000440755
  ensembl transcript: ENST00000540440
  gene symbol: PMFBP1
  hgvsc: ENST00000540440.1:c.143A>G
  hgvsp: ENST00000540440.1:c.143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17728
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu48Gly
num of homozygotes: 0
reference allele: T

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: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.683e0

QD
type: SiteQuality
SIO_000300: 1.456e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.170123e6

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.169748e6

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 3.956e0

QD
type: SiteQuality
SIO_000300: 1.036e1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.302823758519961e-4
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 399
allele frequency: 5.993870928974883e-3
allele num: 66568
num of homozygotes: 2

African
type: Population
allele count: 7
allele frequency: 6.755452615325227e-4
allele num: 10362
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.709251101321586e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 76
allele frequency: 1.149077713940127e-2
allele num: 6614
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

DP
type: SiteQuality
SIO_000300: 2.175444e6

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.49e0

QD
type: SiteQuality
SIO_000300: 1.392e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

African
type: Population
allele count: 1
allele frequency: 9.67305088024763e-5
allele num: 10338
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.13421666053245e-5
allele num: 16302
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.226e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

FS
type: SiteQuality
SIO_000300: 2.638e0

DP
type: SiteQuality
SIO_000300: 2.112111e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 11574
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: 6
allele frequency: 9.033423667570009e-5
allele num: 66420
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.821e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.956e0

QD
type: SiteQuality
SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 2.110577e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
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: 10318
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.241e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.68e-1

FS
type: SiteQuality
SIO_000300: 5.157e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.128e0

DP
type: SiteQuality
SIO_000300: 2.107341e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.464268112370626e-4
allele num: 16232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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QD
type: SiteQuality
SIO_000300: 1.348e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

FS
type: SiteQuality
SIO_000300: 4.489e0

DP
type: SiteQuality
SIO_000300: 2.106205e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
allele count: 2
allele frequency: 1.246105919003115e-4
allele num: 16050
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Latino
type: Population
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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

FS
type: SiteQuality
SIO_000300: 3.414e0

DP
type: SiteQuality
SIO_000300: 2.098635e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 9.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.225874735400324e-5
allele num: 16062
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021330593993595e-5
allele num: 66196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.809e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.758e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.348e0

VQSLOD
type: SiteQuality
SIO_000300: -9.024e-1

DP
type: SiteQuality
SIO_000300: 2.097698e6

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

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

African
type: Population
allele count: 2
allele frequency: 1.953506544246923e-4
allele num: 10238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515105602860519e-5
allele num: 66002
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
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MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 1.365e0

QD
type: SiteQuality
SIO_000300: 1.132e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 2.086466e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 3.91e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

DP
type: SiteQuality
SIO_000300: 2.084977e6

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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East Asian
type: Population
allele count: 0
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allele num: 8632
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South Asian
type: Population
allele count: 0
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African
type: Population
allele count: 1
allele frequency: 9.84251968503937e-5
allele num: 10160
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65682
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

FS
type: SiteQuality
SIO_000300: 1.428e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

DP
type: SiteQuality
SIO_000300: 2.068779e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65678
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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Latino
type: Population
allele count: 0
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allele num: 11556
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.068576e6

QD
type: SiteQuality
SIO_000300: 1.692e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.797e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.936e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

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

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
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Latino
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allele count: 3
allele frequency: 2.600104004160167e-4
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 3
allele frequency: 3.011443485243927e-4
allele num: 9962
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.079860790292279e-5
allele num: 64938
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.034618e6

FS
type: SiteQuality
SIO_000300: 2.325e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14138
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Latino
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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: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
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allele num: 9960
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East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
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Other
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.976e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.273e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

FS
type: SiteQuality
SIO_000300: 1.505e0

DP
type: SiteQuality
SIO_000300: 2.033195e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
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allele num: 9868
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13578
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.642381851381882e-5
allele num: 64622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

DP
type: SiteQuality
SIO_000300: 2.016948e6

FS
type: SiteQuality
SIO_000300: 3.497e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.58e0

QD
type: SiteQuality
SIO_000300: 1.246e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.468259895444362e-5
allele num: 13390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.801e1

FS
type: SiteQuality
SIO_000300: 2.458e0

VQSLOD
type: SiteQuality
SIO_000300: -2.708e0

DP
type: SiteQuality
SIO_000300: 2.013184e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.427e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.338e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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allele num: 8580
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Latino
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64032
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-1

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -3.635e-1

DP
type: SiteQuality
SIO_000300: 1.996466e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.1e1

DP
type: SiteQuality
SIO_000300: 1.942054e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

FS
type: SiteQuality
SIO_000300: 9.834e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.504e1

MQ
type: SiteQuality
SIO_000300: 5.848e1

FS
type: SiteQuality
SIO_000300: 1.971e0

DP
type: SiteQuality
SIO_000300: 1.94144e6

VQSLOD
type: SiteQuality
SIO_000300: -1.628e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.723345588235294e-3
allele num: 8704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 141
allele frequency: 2.139605462822458e-2
allele num: 6590
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1014
allele frequency: 1.657512750098078e-2
allele num: 61176
num of homozygotes: 8

South Asian
type: Population
allele count: 11
allele frequency: 1.128205128205128e-3
allele num: 9750
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 1.851851851851852e-3
allele num: 11340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.461e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.821423e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-1

FS
type: SiteQuality
SIO_000300: 3.038e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

DP
type: SiteQuality
SIO_000300: 2.85875e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021604471974619e-5
allele num: 66190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.860028e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

FS
type: SiteQuality
SIO_000300: 8.478e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.275e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 2.314e1

South Asian
type: Population
allele count: 2
allele frequency: 1.291822761917065e-4
allele num: 15482
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.656e1

VQSLOD
type: SiteQuality
SIO_000300: -2.738e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.861167e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.182e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.304e0

DP
type: SiteQuality
SIO_000300: 2.866822e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.918e0

FS
type: SiteQuality
SIO_000300: 1.57889e2

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 8.2e-1

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

GenotypeQuality
all individuals: 40620
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 2158
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variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

FS
type: SiteQuality
SIO_000300: 5.183e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 3.363463e6

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

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

GenotypeQuality
all individuals: 1304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8332
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 40622
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variant carriers: 19

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2157
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.248066662670104e-4
allele num: 66724
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
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: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.273e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.402e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 3.363448e6

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 8287
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variant carriers: 0

GenotypeQuality
all individuals: 2151
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 1304
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
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: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.666e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

DP
type: SiteQuality
SIO_000300: 3.362075e6

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2118
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GenotypeQuality
all individuals: 2150
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2744
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 40615
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.492e1

DP
type: SiteQuality
SIO_000300: 3.362163e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1097
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 40615
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variant carriers: 1

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 66
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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: 2118
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

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

East Asian
type: Population
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

QD
type: SiteQuality
SIO_000300: 1.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

FS
type: SiteQuality
SIO_000300: 6.521e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.36206e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 2216
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 58
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GenotypeQuality
all individuals: 1084
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GenotypeQuality
all individuals: 2096
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 40614
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.223391240518718e-4
allele num: 16348
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.546e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.112e0

QD
type: SiteQuality
SIO_000300: 1.239e1

DP
type: SiteQuality
SIO_000300: 3.358505e6

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1084
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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 66668
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.239e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.546e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.112e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.48e-1

FS
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 3.358505e6

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.153088850603002e-5
allele num: 16252
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 8.692e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.97e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.093e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

DP
type: SiteQuality
SIO_000300: 3.355037e6

QD
type: SiteQuality
SIO_000300: 1.136e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 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: 66626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 3.353005e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e0

DP
type: SiteQuality
SIO_000300: 3.346809e6

FS
type: SiteQuality
SIO_000300: 7.539e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.738e0

QD
type: SiteQuality
SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: -1.928e0

GenotypeQuality
all individuals: 1304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
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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: 65
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variant carriers: 0

GenotypeQuality
all individuals: 2742
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.559e0

DP
type: SiteQuality
SIO_000300: 3.345322e6

FS
type: SiteQuality
SIO_000300: 5.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 4

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: 3

GenotypeQuality
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GenotypeQuality
all individuals: 2074
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.023888720895071e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1859
allele frequency: 2.793136606767234e-2
allele num: 66556
num of homozygotes: 32

South Asian
type: Population
allele count: 204
allele frequency: 1.273249282236924e-2
allele num: 16022
num of homozygotes: 5

Other
type: Population
allele count: 33
allele frequency: 3.658536585365853e-2
allele num: 902
num of homozygotes: 2

African
type: Population
allele count: 50
allele frequency: 4.81139337952271e-3
allele num: 10392
num of homozygotes: 1

Latino
type: Population
allele count: 218
allele frequency: 1.883532054605149e-2
allele num: 11574
num of homozygotes: 4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

QD
type: SiteQuality
SIO_000300: 1.541e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

FS
type: SiteQuality
SIO_000300: 6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 3.353984e6

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 6
allele frequency: 3.788835564536499e-4
allele num: 15836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51426507764536e-5
allele num: 66456
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.260945e6

FS
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.567e0

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
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: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.257844e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.896e-1

QD
type: SiteQuality
SIO_000300: 1.806e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 141
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.339546088500064e-5
allele num: 15774
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.476e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.66e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 3.255482e6

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

FS
type: SiteQuality
SIO_000300: 7.405e0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8622
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQ
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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SIO_000300: 1.616e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

Latino
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allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

East Asian
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allele frequency: 1.161170459823502e-4
allele num: 8612
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10374
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Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

South Asian
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allele frequency: 1.311131506490101e-4
allele num: 15254
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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DP
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MQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: -4.06e-1

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66216
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Other
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allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.570302233902759e-5
allele num: 15220
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East Asian
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allele frequency: 0.0e0
allele num: 8612
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FS
type: SiteQuality
SIO_000300: 2.122e0

MQ
type: SiteQuality
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.49e0

MQRankSum
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DP
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SIO_000300: 3.242369e6

BaseQRankSum
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SIO_000300: -2.552e0

InbreedingCoeff
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SIO_000300: 5.2e-3

ClippingRankSum
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SIO_000300: -2.78e-1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.023065993530639e-5
allele num: 66158
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10356
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.527e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

MQRankSum
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QD
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SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
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SIO_000300: -3.969e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.240461e6

FS
type: SiteQuality
SIO_000300: 1.561e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.9e-3

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.764984440535787e-5
allele num: 14782
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66036
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
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.344086021505376e-4
allele num: 7440
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

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

VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
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allele num: 7468
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele frequency: 1.020408163265306e-2
allele num: 98
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: NaN
allele num: 0
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Other
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Latino
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allele frequency: 1.020408163265306e-2
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East Asian
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African
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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Other
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European (Finnish)
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East Asian
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African
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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DP
type: SiteQuality
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QD
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele frequency: 2.054794520547945e-2
allele num: 146
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European (Finnish)
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South Asian
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allele frequency: 1.332267519317879e-4
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European (Non-Finnish)
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Latino
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African
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MQ
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 4.201680672268907e-3
allele num: 238
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.741e0

DP
type: SiteQuality
SIO_000300: 2.21318e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.913e1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64722
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: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.256e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 1.519e1

DP
type: SiteQuality
SIO_000300: 2.204028e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

GenotypeQuality
all individuals: 581
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.554291807357384e-4
allele num: 11254
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.05143721633888e-4
allele num: 6610
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 57
allele frequency: 8.793582227707498e-4
allele num: 64820
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.201923076923077e-3
allele num: 832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.249e0

QD
type: SiteQuality
SIO_000300: 1.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 2.210208e6

GenotypeQuality
all individuals: 587
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14513
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2388
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
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variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.201923076923077e-3
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 2.665e0

QD
type: SiteQuality
SIO_000300: 1.289e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 2.210455e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 589
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 186
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variant carriers: 0

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

GenotypeQuality
all individuals: 226
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14512
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541354542371836e-5
allele num: 64878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 4.824e0

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.212799e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.998e0

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
all individuals: 296
bin: 7.5e0
variant carriers: 18

GenotypeQuality
all individuals: 16740
bin: 9.75e1
variant carriers: 14622

GenotypeQuality
all individuals: 2281
bin: 7.75e1
variant carriers: 89

GenotypeQuality
all individuals: 1920
bin: 2.25e1
variant carriers: 45

GenotypeQuality
all individuals: 26770
bin: 6.25e1
variant carriers: 22

GenotypeQuality
all individuals: 237
bin: 3.75e1
variant carriers: 49

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 32

GenotypeQuality
all individuals: 664
bin: 9.25e1
variant carriers: 32

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 53

GenotypeQuality
all individuals: 378
bin: 2.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1892
bin: 7.25e1
variant carriers: 76

GenotypeQuality
all individuals: 1353
bin: 8.25e1
variant carriers: 99

Other
type: Population
allele count: 148
allele frequency: 1.749408983451537e-1
allele num: 846
num of homozygotes: 16

European (Non-Finnish)
type: Population
allele count: 10867
allele frequency: 1.666768919292003e-1
allele num: 65198
num of homozygotes: 923

Latino
type: Population
allele count: 700
allele frequency: 6.084840055632823e-2
allele num: 11504
num of homozygotes: 26

European (Finnish)
type: Population
allele count: 1671
allele frequency: 2.527987897125568e-1
allele num: 6610
num of homozygotes: 210

East Asian
type: Population
allele count: 186
allele frequency: 2.16379711493718e-2
allele num: 8596
num of homozygotes: 1

African
type: Population
allele count: 270
allele frequency: 2.618816682832202e-2
allele num: 10310
num of homozygotes: 4

South Asian
type: Population
allele count: 2461
allele frequency: 2.001463890696161e-1
allele num: 12296
num of homozygotes: 244

DP
type: SiteQuality
SIO_000300: 2.559975e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.38e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
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variant carriers: 0

GenotypeQuality
all individuals: 626
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 2910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
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variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.644091117566121e-5
allele num: 13082
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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: 65492
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

FS
type: SiteQuality
SIO_000300: 1.426e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQ
type: SiteQuality
SIO_000300: 5.854e1

DP
type: SiteQuality
SIO_000300: 1.715221e6

QD
type: SiteQuality
SIO_000300: 9.82e0

VQSLOD
type: SiteQuality
SIO_000300: -8.076e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 2909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
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variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2821
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1671
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
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: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.102584444512251e-5
allele num: 65546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13212
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

DP
type: SiteQuality
SIO_000300: 1.716417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.107e0

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

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
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GenotypeQuality
all individuals: 2910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
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variant carriers: 0

GenotypeQuality
all individuals: 645
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GenotypeQuality
all individuals: 8374
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 36690
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variant carriers: 0

GenotypeQuality
all individuals: 2463
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13372
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.09e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

DP
type: SiteQuality
SIO_000300: 1.718182e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
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GenotypeQuality
all individuals: 2918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.467406380027739e-4
allele num: 11536
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65762
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

FS
type: SiteQuality
SIO_000300: 1.745e0

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.728513e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

GenotypeQuality
all individuals: 1675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8420
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2925
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 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: 6610
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: 0
allele frequency: 0.0e0
allele num: 65800
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14040
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.107e0

QD
type: SiteQuality
SIO_000300: 1.713e1

DP
type: SiteQuality
SIO_000300: 1.728907e6

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14098
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.729611e6

VQSLOD
type: SiteQuality
SIO_000300: -1.146e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 8.696e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

QD
type: SiteQuality
SIO_000300: 1.195e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65842
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

DP
type: SiteQuality
SIO_000300: 1.730763e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 2.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
type: SiteQuality
SIO_000300: 8.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

DP
type: SiteQuality
SIO_000300: 1.737558e6

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.691e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

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

GenotypeQuality
all individuals: 1675
bin: 8.25e1
variant carriers: 0

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