1-19969812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969812
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969812
    reference: chr 1
allele count: 5
allele frequency: 4.243689633514964e-5
allele num: 117822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2589G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11693G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.7G>A
  hgvsp: ENSP00000289749.2:p.Gly3Ser
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8794G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2589G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11693G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly3Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-19969819-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969819
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969819
    reference: chr 1
allele count: 4
allele frequency: 3.381577167590964e-5
allele num: 118288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2596T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.14T>C
  hgvsp: ENSP00000289749.2:p.Leu5Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11686T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8801T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11686T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2596T>C
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 131
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genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 426
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu5Pro
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

1-19969823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969823
    reference: chr 1
allele count: 1
allele frequency: 8.443521286117163e-6
allele num: 118434
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.18G>A
  hgvsp: ENSP00000289749.2:p.Met6Ile
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2600G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11682G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8805G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11682G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2600G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
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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: 2.5e0
  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
  all individuals: 11
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 291
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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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: 1819
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genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met6Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-19969827-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969827
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969827
    reference: chr 1
allele count: 1
allele frequency: 8.43397881384522e-6
allele num: 118568
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11678C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11678C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2604C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2604C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8809C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.22C>G
  hgvsp: ENSP00000289749.2:p.Gln8Glu
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln8Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-19969831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969831
    reference: chr 1
allele count: 1
allele frequency: 8.428860418071477e-6
allele num: 118640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2608C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.26C>T
  hgvsp: ENSP00000289749.2:p.Thr9Ile
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8813C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11674C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11674C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2608C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr9Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-19969832-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969832
    reference: chr 1
allele count: 7
allele frequency: 5.897716741090235e-5
allele num: 118690
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11673A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8814A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2609A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11673A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.27A>G
  hgvsp: ENST00000289749.2:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2609A>G
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr9Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-19969840-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969840
    reference: chr 1
allele count: 3
allele frequency: 2.528146699925841e-5
allele num: 118664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11665C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8822C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2617C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11665C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.35C>A
  hgvsp: ENSP00000289749.2:p.Ala12Asp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2617C>A
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18108
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala12Asp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-19969843-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969843
    reference: chr 1
allele count: 16
allele frequency: 1.34775430439031e-4
allele num: 118716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2620T>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11662T>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8825T>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11662T>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.38T>A
  hgvsp: ENSP00000289749.2:p.Val13Glu
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2620T>A
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val13Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-19969855-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969855
    reference: chr 1
allele count: 1
allele frequency: 8.430423713095819e-6
allele num: 118618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8837A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11650A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11650A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.50A>C
  hgvsp: ENSP00000289749.2:p.Lys17Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2632A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2632A>C
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32378
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6110
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys17Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

1-19969862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969862
    reference: chr 1
allele count: 1
allele frequency: 8.444662129068216e-6
allele num: 118418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11643A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2639A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11643A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2639A>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8844A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.57A>G
  hgvsp: ENST00000289749.2:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro19Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ

1-19969866-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969866
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969866
    reference: chr 1
allele count: 1
allele frequency: 8.45394291897741e-6
allele num: 118288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.61A>G
  hgvsp: ENSP00000289749.2:p.Lys21Glu
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11639A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8848A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2643A>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2643A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11639A>G
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6047
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 420
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys21Glu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-19969867-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969867
    reference: chr 1
allele count: 1
allele frequency: 8.453514125822104e-6
allele num: 118294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2644A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11638A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.62A>C
  hgvsp: ENSP00000289749.2:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8849A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2644A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11638A>C
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys21Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

1-19969899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969899
    reference: chr 1
allele count: 1
allele frequency: 8.606444505645828e-6
allele num: 116192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2676T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+8T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2676T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11606T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8881T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11606T>C
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
hgvs: c.86+8T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP

1-19969908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969908
    reference: chr 1
allele count: 2
allele frequency: 1.736744299136838e-5
allele num: 115158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2685G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11597G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-231G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8890G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11597G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+17G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2685G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

1-19969909-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969909
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969909
    reference: chr 1
allele count: 6
allele frequency: 5.226025607525477e-5
allele num: 114810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-230C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11596C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+18C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8891C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11596C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2686C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2686C>G
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

1-19969929-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969929
    reference: chr 1
allele count: 1
allele frequency: 8.869651600085149e-6
allele num: 112744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-210A>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2706A>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11576A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8911A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11576A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2706A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+38A>G
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14470
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

1-19969931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969931
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969931
    reference: chr 1
allele count: 1
allele frequency: 8.90805109658109e-6
allele num: 112258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11574C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11574C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8913C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-208C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2708C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+40C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2708C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-19969935-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969935
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969935
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 111690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8917T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+44T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2712T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2712T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-204T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11570T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11570T>C
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-19969940-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969941
    reference: chr 1
allele count: 1
allele frequency: 9.008684371734351e-6
allele num: 111004
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8922_-20+8923insA
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11565_-19-11564insA
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-199_-198insA
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2717_*433+2718insA
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2717_-20+2718insA
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+49_86+50insA
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11565_*88-11564insA
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12021
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14608
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-19969942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969942
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969942
    reference: chr 1
allele count: 1
allele frequency: 9.130752373995617e-6
allele num: 109520
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+51G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-11563G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+2719G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-20+8924G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-197G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-11563G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+2719G>A
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14621
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-19969943-GTGTCCCTGGGCCACCACTTTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19969943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19969922
    reference: chr 1
allele count: 1
allele frequency: 9.11527172625016e-6
allele num: 109706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14556
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7045
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7642
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: GTGTCCCTGGGCCACCACTTTC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-19972398-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972398
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972398
    reference: chr 1
allele count: 1
allele frequency: 6.231306081754735e-5
allele num: 16048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9107C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2279C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5175C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+1950C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1458C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2507C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+374C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5175C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9107C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9107C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1458C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-19972400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972400
    reference: chr 1
allele count: 35
allele frequency: 2.156500308071472e-3
allele num: 16230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+376G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+1952G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5177G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2281G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1460G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9105G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5177G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9105G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2509G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1460G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9105G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 2
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-19972403-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972403
    reference: chr 1
allele count: 43
allele frequency: 2.646153846153846e-3
allele num: 16250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1463A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5180A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5180A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.-42A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2512A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+1955A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9102A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+379A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2284A>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9102A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9102A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1463A>C
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 2
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-19972435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972435
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972435
    reference: chr 1
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9070T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9070T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+1987T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2316T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5212T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.-10T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+411T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5212T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9070T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1495T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1495T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2544T>C
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-19972447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972447
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972447
    reference: chr 1
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.3G>A
  hgvsp: ENSP00000391858.1:p.Met1?
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5224G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+423G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9058G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9058G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2328G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2556G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9058G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1507G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5224G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1507G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+1999G>A
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-19972466-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972466
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972466
    reference: chr 1
allele count: 6
allele frequency: 3.631521607553565e-4
allele num: 16522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1526C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5243C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2018C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1526C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5243C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2347C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9039C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.22C>A
  hgvsp: ENSP00000391858.1:p.Gln8Lys
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+442C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2575C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9039C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9039C>A
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln8Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-19972483-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972483
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972483
    reference: chr 1
allele count: 1
allele frequency: 6.044487427466151e-5
allele num: 16544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2035T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9022T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+459T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.39T>C
  hgvsp: ENST00000439278.1:c.39T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2364T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2592T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1543T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9022T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5260T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5260T>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9022T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1543T>C
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp13Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-19972486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972486
    reference: chr 1
allele count: 17
allele frequency: 1.027562862669246e-3
allele num: 16544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+462G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1546G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1546G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.42G>A
  hgvsp: ENST00000439278.1:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5263G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9019G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2595G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2038G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9019G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5263G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2367G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9019G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18340
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu14Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-19972496-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972496
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972496
    reference: chr 1
allele count: 1
allele frequency: 6.041565973900435e-5
allele num: 16552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2048C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1556C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9009C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1556C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2377C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9009C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9009C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.52C>A
  hgvsp: ENSP00000391858.1:p.Leu18Met
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5273C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+472C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5273C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2605C>A
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21917
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu18Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-19972505-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972505
    reference: chr 1
allele count: 2
allele frequency: 1.207875347264162e-4
allele num: 16558
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-9000G>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5282G>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2057G>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-9000G>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-9000G>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+481G>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2614G>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2386G>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.61G>C
  hgvsp: ENSP00000391858.1:p.Val21Leu
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5282G>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1565G>C
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1565G>C
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25687
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val21Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

1-19972509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972509
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972509
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 16558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.65G>A
  hgvsp: ENSP00000391858.1:p.Cys22Tyr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2390G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8996G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1569G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5286G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2618G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+485G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1569G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2061G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8996G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5286G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8996G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys22Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-19972513-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972513
    reference: chr 1
allele count: 1
allele frequency: 6.035731530661516e-5
allele num: 16568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5290G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2065G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.69G>T
  hgvsp: ENST00000439278.1:c.69G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1573G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8992G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8992G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+489G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2622G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1573G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8992G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2394G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5290G>T
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly23Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-19972514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972514
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972514
    reference: chr 1
allele count: 1
allele frequency: 6.036460219727152e-5
allele num: 16566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1574C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8991C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5291C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8991C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1574C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.70C>T
  hgvsp: ENSP00000391858.1:p.Gln24Ter
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+490C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2395C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2066C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8991C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5291C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2623C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln24Ter
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-19972517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972517
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972517
    reference: chr 1
allele count: 2
allele frequency: 1.206854936036688e-4
allele num: 16572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2069G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8988G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8988G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.73G>A
  hgvsp: ENSP00000391858.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+493G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5294G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8988G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2626G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5294G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2398G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1577G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1577G>A
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu25Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-19972523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972523
    reference: chr 1
allele count: 1
allele frequency: 6.027727546714889e-5
allele num: 16590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5300C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2632C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2404C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8982C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1583C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1583C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8982C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.79C>T
  hgvsp: ENST00000439278.1:c.79C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+499C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2075C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8982C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5300C>T
  variant of: http://identifiers.org/hgnc/48338
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu27Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-19972533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972533
    reference: chr 1
allele count: 16
allele frequency: 9.646689979500784e-4
allele num: 16586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5310G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+509G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8972G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.83+6G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8972G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2642G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8972G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2085G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1593G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5310G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1593G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2414G>A
  variant of: http://identifiers.org/hgnc/7650
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.83+6G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

1-19972539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972539
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972539
    reference: chr 1
allele count: 2
allele frequency: 1.20598166907863e-4
allele num: 16584
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8966C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2420C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1599C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2648C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1599C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5316C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+515C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8966C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8966C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5316C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.83+12C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2091C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-19972557-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972557
    reference: chr 1
allele count: 1
allele frequency: 6.037918125830214e-5
allele num: 16562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+533G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.83+30G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8948G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1617G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1617G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5334G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2109G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8948G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5334G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2666G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8948G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2438G>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-19972576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972576
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 16426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.83+49G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1636G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+552G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1636G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8929G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5353G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8929G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8929G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2685G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2457G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5353G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2128G>A
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30207
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-19972577-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19972577
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19972577
    reference: chr 1
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-20+5354G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*433+5354G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-20+2129G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8928G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-20+553G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8928G>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-23+1637G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-20+2458G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-20+1637G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.83+50G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.86+2686G>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8928G>T
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-19981454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981454
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981454
    reference: chr 1
allele count: 1
allele frequency: 9.610948792864832e-6
allele num: 104048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-51C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-51C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-51C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-51C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-51C>T
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16016
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-19981455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981455
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981455
    reference: chr 1
allele count: 7
allele frequency: 6.704980842911877e-5
allele num: 104400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-50G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-50G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-50G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-50G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-50G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17712
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-19981457-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981457
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981457
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 104508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-48C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-48C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-48C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-48C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-48C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-48C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-48C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-48C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-48C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-48C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-48C>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-48C>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-48C>A
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-19981467-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981467
    reference: chr 1
allele count: 1
allele frequency: 9.512575624976219e-6
allele num: 105124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-38C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-38C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-38C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-38C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-38C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-38C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-38C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-38C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-38C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-38C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-38C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-38C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-38C>G
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-19981471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981471
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981471
    reference: chr 1
allele count: 9
allele frequency: 8.546196942360649e-5
allele num: 105310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-34C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-34C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-34C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-34C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-34C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-34C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-34C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-34C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-34C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-34C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-34C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-34C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-34C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25252
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17836
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

1-19981479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981479
    reference: chr 1
allele count: 1
allele frequency: 9.446617166392714e-6
allele num: 105858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-26C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-26C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-26C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-26C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-26C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-26C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-26C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-26C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-26C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-26C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-26C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-26C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-26C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-19981481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981481
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981481
    reference: chr 1
allele count: 2
allele frequency: 1.885902876001886e-5
allele num: 106050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-24C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-24C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-24C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-24C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-24C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-24C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-24C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-24C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-24C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-24C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-24C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-24C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-24C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18653
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-19981486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981486
    reference: chr 1
allele count: 1
allele frequency: 9.388613489559862e-6
allele num: 106512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-19C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-19C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-19C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-19C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-19C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-19C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-19C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-19C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-19C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-19C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-19C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-19C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-19C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18969
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-19981497-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981497
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981497
    reference: chr 1
allele count: 2
allele frequency: 1.85673437558023e-5
allele num: 107716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-8C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-8C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-8C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-8C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-8C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-8C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-8C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-8C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-8C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-8C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-8C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-8C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-8C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.87-8C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-19981498-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981498
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981498
    reference: chr 1
allele count: 1
allele frequency: 9.262689885142645e-6
allele num: 107960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-22-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-19-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*88-7G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-19-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-19-7G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-19-7G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.87-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*434-7G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.84-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-19-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-19-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-19-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-22-7G>A
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.87-7G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-19981507-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981507
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981507
    reference: chr 1
allele count: 1
allele frequency: 9.169600938967136e-6
allele num: 109056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-20C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-17C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-17C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*90C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.89C>G
  hgvsp: ENSP00000289749.2:p.Ala30Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-17C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-17C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-17C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*436C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.86C>G
  hgvsp: ENSP00000391858.1:p.Ala29Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-17C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-20C>G
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-17C>G
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala30Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-19981520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981520
    reference: chr 1
allele count: 8
allele frequency: 7.149623751050101e-5
allele num: 111894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*449G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.102G>A
  hgvsp: ENST00000289749.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-7G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.99G>A
  hgvsp: ENST00000439278.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*103G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-4G>A
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr34Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-19981523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981523
    reference: chr 1
allele count: 13
allele frequency: 1.156521893849083e-4
allele num: 112406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.105C>T
  hgvsp: ENST00000289749.2:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*452C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.-1C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*106C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.102C>T
  hgvsp: ENST00000439278.1:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.-1C>T
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20289
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Gly35Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-19981530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981530
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981530
    reference: chr 1
allele count: 64
allele frequency: 5.639561524091502e-4
allele num: 113484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.7C>T
  hgvsp: ENSP00000399333.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.4C>T
  hgvsp: ENSP00000449007.1:p.Leu2Phe
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.7C>T
  hgvsp: ENSP00000473403.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.7C>T
  hgvsp: ENSP00000473411.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.4C>T
  hgvsp: ENSP00000394079.1:p.Leu2Phe
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.7C>T
  hgvsp: ENSP00000364278.3:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.109C>T
  hgvsp: ENSP00000391858.1:p.Leu37Phe
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.112C>T
  hgvsp: ENSP00000289749.2:p.Leu38Phe
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.7C>T
  hgvsp: ENSP00000390607.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.7C>T
  hgvsp: ENSP00000400250.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*459C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.7C>T
  hgvsp: ENSP00000412419.1:p.Leu3Phe
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20353
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28851
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu3Phe
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-19981533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981533
    reference: chr 1
allele count: 1
allele frequency: 8.77778167901408e-6
allele num: 113924
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.10C>T
  hgvsp: ENSP00000473411.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.115C>T
  hgvsp: ENSP00000289749.2:p.Arg39Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.112C>T
  hgvsp: ENSP00000391858.1:p.Arg38Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.10C>T
  hgvsp: ENSP00000399333.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.10C>T
  hgvsp: ENSP00000364278.3:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.10C>T
  hgvsp: ENSP00000412419.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.7C>T
  hgvsp: ENSP00000449007.1:p.Arg3Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.10C>T
  hgvsp: ENSP00000390607.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.10C>T
  hgvsp: ENSP00000400250.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.10C>T
  hgvsp: ENSP00000473403.1:p.Arg4Trp
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.7C>T
  hgvsp: ENSP00000394079.1:p.Arg3Trp
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*462C>T
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg4Trp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-19981534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981534
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981534
    reference: chr 1
allele count: 1
allele frequency: 8.76531739214277e-6
allele num: 114086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.11G>A
  hgvsp: ENSP00000473403.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.11G>A
  hgvsp: ENSP00000400250.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.11G>A
  hgvsp: ENSP00000473411.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.116G>A
  hgvsp: ENSP00000289749.2:p.Arg39Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.11G>A
  hgvsp: ENSP00000390607.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.11G>A
  hgvsp: ENSP00000399333.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.113G>A
  hgvsp: ENSP00000391858.1:p.Arg38Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.8G>A
  hgvsp: ENSP00000394079.1:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.11G>A
  hgvsp: ENSP00000412419.1:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.11G>A
  hgvsp: ENSP00000364278.3:p.Arg4Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*117G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.8G>A
  hgvsp: ENSP00000449007.1:p.Arg3Gln
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*463G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg4Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

1-19981538-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981538
    reference: chr 1
allele count: 1
allele frequency: 8.712319219376199e-6
allele num: 114780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.15C>G
  hgvsp: ENST00000439664.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.12C>G
  hgvsp: ENST00000427894.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.15C>G
  hgvsp: ENST00000425400.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.15C>G
  hgvsp: ENST00000602293.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.15C>G
  hgvsp: ENST00000375136.3:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.15C>G
  hgvsp: ENST00000451758.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*467C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.117C>G
  hgvsp: ENST00000439278.1:c.117C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.15C>G
  hgvsp: ENST00000602662.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*121C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.120C>G
  hgvsp: ENST00000289749.2:c.120C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.12C>G
  hgvsp: ENST00000548815.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.15C>G
  hgvsp: ENST00000428975.1:c.15C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val5Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-19981541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981541
    reference: chr 1
allele count: 1
allele frequency: 8.676639017110332e-6
allele num: 115252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.18G>A
  hgvsp: ENST00000425400.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.15G>A
  hgvsp: ENST00000427894.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.18G>A
  hgvsp: ENST00000428975.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.123G>A
  hgvsp: ENST00000289749.2:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*124G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.120G>A
  hgvsp: ENST00000439278.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.15G>A
  hgvsp: ENST00000548815.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.18G>A
  hgvsp: ENST00000375136.3:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.18G>A
  hgvsp: ENST00000439664.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.18G>A
  hgvsp: ENST00000451758.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.18G>A
  hgvsp: ENST00000602662.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*470G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.18G>A
  hgvsp: ENST00000602293.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu6Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-19981549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981549
    reference: chr 1
allele count: 1
allele frequency: 8.627829928216456e-6
allele num: 115904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.26C>T
  hgvsp: ENSP00000400250.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.26C>T
  hgvsp: ENSP00000364278.3:p.Ala9Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.26C>T
  hgvsp: ENSP00000399333.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.26C>T
  hgvsp: ENSP00000473403.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*132C>T
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.26C>T
  hgvsp: ENSP00000412419.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.23C>T
  hgvsp: ENSP00000394079.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.26C>T
  hgvsp: ENSP00000473411.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.23C>T
  hgvsp: ENSP00000449007.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.26C>T
  hgvsp: ENSP00000390607.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.131C>T
  hgvsp: ENSP00000289749.2:p.Ala44Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.128C>T
  hgvsp: ENSP00000391858.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*478C>T
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala9Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-19981554-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981554
    reference: chr 1
allele count: 2
allele frequency: 1.715854495538778e-5
allele num: 116560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.31C>G
  hgvsp: ENSP00000473403.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.31C>G
  hgvsp: ENSP00000412419.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.28C>G
  hgvsp: ENSP00000394079.1:p.Leu10Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.31C>G
  hgvsp: ENSP00000364278.3:p.Leu11Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.31C>G
  hgvsp: ENSP00000399333.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.31C>G
  hgvsp: ENSP00000400250.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.133C>G
  hgvsp: ENSP00000391858.1:p.Leu45Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.31C>G
  hgvsp: ENSP00000473411.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.28C>G
  hgvsp: ENSP00000449007.1:p.Leu10Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*483C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.136C>G
  hgvsp: ENSP00000289749.2:p.Leu46Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.31C>G
  hgvsp: ENSP00000390607.1:p.Leu11Val
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*137C>G
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20951
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu11Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-19981555-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981555
    reference: chr 1
allele count: 13
allele frequency: 1.122605827187786e-4
allele num: 115802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.32T>C
  hgvsp: ENSP00000399333.1:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.29T>C
  hgvsp: ENSP00000394079.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*138T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.134T>C
  hgvsp: ENSP00000391858.1:p.Leu45Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.32T>C
  hgvsp: ENSP00000400250.1:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*484T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.137T>C
  hgvsp: ENSP00000289749.2:p.Leu46Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.29T>C
  hgvsp: ENSP00000449007.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.32T>C
  hgvsp: ENSP00000364278.3:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.32T>C
  hgvsp: ENSP00000473411.1:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.32T>C
  hgvsp: ENSP00000473403.1:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.32T>C
  hgvsp: ENSP00000412419.1:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.32T>C
  hgvsp: ENSP00000390607.1:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20915
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu11Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-19981560-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981560
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981560
    reference: chr 1
allele count: 1
allele frequency: 8.565310492505354e-6
allele num: 116750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.139G>A
  hgvsp: ENSP00000391858.1:p.Ala47Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.37G>A
  hgvsp: ENSP00000473411.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.37G>A
  hgvsp: ENSP00000473403.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.37G>A
  hgvsp: ENSP00000390607.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.37G>A
  hgvsp: ENSP00000399333.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.37G>A
  hgvsp: ENSP00000400250.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.142G>A
  hgvsp: ENSP00000289749.2:p.Ala48Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.34G>A
  hgvsp: ENSP00000449007.1:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.37G>A
  hgvsp: ENSP00000364278.3:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.37G>A
  hgvsp: ENSP00000412419.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.34G>A
  hgvsp: ENSP00000394079.1:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*489G>A
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*143G>A
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala13Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum

1-19981568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981568
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981568
    reference: chr 1
allele count: 1
allele frequency: 8.632149577887885e-6
allele num: 115846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.45A>G
  hgvsp: ENST00000439664.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.150A>G
  hgvsp: ENST00000289749.2:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.45A>G
  hgvsp: ENST00000602662.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.42A>G
  hgvsp: ENST00000427894.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.45A>G
  hgvsp: ENST00000425400.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.45A>G
  hgvsp: ENST00000375136.3:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*497A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.45A>G
  hgvsp: ENST00000451758.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.42A>G
  hgvsp: ENST00000548815.1:c.42A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.45A>G
  hgvsp: ENST00000428975.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.147A>G
  hgvsp: ENST00000439278.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*151A>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.45A>G
  hgvsp: ENST00000602293.1:c.45A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu15Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-19981574-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981574
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981574
    reference: chr 1
allele count: 1
allele frequency: 8.707918981521795e-6
allele num: 114838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.51T>C
  hgvsp: ENST00000439664.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.48T>C
  hgvsp: ENST00000427894.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.51T>C
  hgvsp: ENST00000602293.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*503T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.153T>C
  hgvsp: ENST00000439278.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.51T>C
  hgvsp: ENST00000602662.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.51T>C
  hgvsp: ENST00000375136.3:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.51T>C
  hgvsp: ENST00000425400.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.48T>C
  hgvsp: ENST00000548815.1:c.48T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.51T>C
  hgvsp: ENST00000428975.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*157T>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.51T>C
  hgvsp: ENST00000451758.1:c.51T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.156T>C
  hgvsp: ENST00000289749.2:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala17Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-19981575-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981575
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981574
    reference: chr 1
allele count: 1
allele frequency: 8.713078330574192e-6
allele num: 114770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.56delC
  hgvsp: ENSP00000400250.1:p.Pro19HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.53delC
  hgvsp: ENSP00000394079.1:p.Pro18HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.161delC
  hgvsp: ENSP00000289749.2:p.Pro54HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*508delC
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.56delC
  hgvsp: ENSP00000364278.3:p.Pro19HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.56delC
  hgvsp: ENSP00000473411.1:p.Pro19HisfsTer42
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.56delC
  hgvsp: ENSP00000399333.1:p.Pro19HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.56delC
  hgvsp: ENSP00000390607.1:p.Pro19HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.56delC
  hgvsp: ENSP00000473403.1:p.Pro19HisfsTer42
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.56delC
  hgvsp: ENSP00000412419.1:p.Pro19HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.53delC
  hgvsp: ENSP00000449007.1:p.Pro18HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.158delC
  hgvsp: ENSP00000391858.1:p.Pro53HisfsTer42
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*162delC
  variant of: http://identifiers.org/hgnc/48338
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro19HisfsTer42
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: GC
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-19981576-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981576
    reference: chr 1
allele count: 440
allele frequency: 3.927589531188632e-3
allele num: 112028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.53C>G
  hgvsp: ENSP00000400250.1:p.Ala18Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.53C>G
  hgvsp: ENSP00000412419.1:p.Ala18Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.53C>G
  hgvsp: ENSP00000473411.1:p.Ala18Gly
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.53C>G
  hgvsp: ENSP00000364278.3:p.Ala18Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.155C>G
  hgvsp: ENSP00000391858.1:p.Ala52Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.53C>G
  hgvsp: ENSP00000473403.1:p.Ala18Gly
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.158C>G
  hgvsp: ENSP00000289749.2:p.Ala53Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.50C>G
  hgvsp: ENSP00000449007.1:p.Ala17Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.53C>G
  hgvsp: ENSP00000399333.1:p.Ala18Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.50C>G
  hgvsp: ENSP00000394079.1:p.Ala17Gly
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*505C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*159C>G
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.53C>G
  hgvsp: ENSP00000390607.1:p.Ala18Gly
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 26023
  bin: 2.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
hgvs: p.Ala18Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-19981580-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19981580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 19981580
    reference: chr 1
allele count: 24
allele frequency: 2.119766825649179e-4
allele num: 113220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473403
  ensembl transcript: ENST00000602293
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602293.1:c.57A>C
  hgvsp: ENST00000602293.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473411
  ensembl transcript: ENST00000602662
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602662.1:c.57A>C
  hgvsp: ENST00000602662.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000449007
  ensembl transcript: ENST00000548815
  gene symbol: NBL1
  hgvsc: ENST00000548815.1:c.54A>C
  hgvsp: ENST00000548815.1:c.54A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000400250
  ensembl transcript: ENST00000425400
  gene symbol: NBL1
  hgvsc: ENST00000425400.1:c.57A>C
  hgvsp: ENST00000425400.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000399333
  ensembl transcript: ENST00000439664
  gene symbol: NBL1
  hgvsc: ENST00000439664.1:c.57A>C
  hgvsp: ENST00000439664.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000412419
  ensembl transcript: ENST00000428975
  gene symbol: NBL1
  hgvsc: ENST00000428975.1:c.57A>C
  hgvsp: ENST00000428975.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473256
  ensembl transcript: ENST00000602450
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602450.1:c.*163A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000364278
  ensembl transcript: ENST00000375136
  gene symbol: NBL1
  hgvsc: ENST00000375136.3:c.57A>C
  hgvsp: ENST00000375136.3:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000391858
  ensembl transcript: ENST00000439278
  gene symbol: NBL1
  hgvsc: ENST00000439278.1:c.159A>C
  hgvsp: ENST00000439278.1:c.159A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000270136
  ensembl protein: ENSP00000473550
  ensembl transcript: ENST00000602384
  gene symbol: MINOS1-NBL1
  hgvsc: ENST00000602384.1:c.*509A>C
  variant of: http://identifiers.org/hgnc/48338
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000394079
  ensembl transcript: ENST00000427894
  gene symbol: NBL1
  hgvsc: ENST00000427894.1:c.54A>C
  hgvsp: ENST00000427894.1:c.54A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000390607
  ensembl transcript: ENST00000451758
  gene symbol: NBL1
  hgvsc: ENST00000451758.1:c.57A>C
  hgvsp: ENST00000451758.1:c.57A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158747
  ensembl protein: ENSP00000289749
  ensembl transcript: ENST00000289749
  gene symbol: NBL1
  hgvsc: ENST00000289749.2:c.162A>C
  hgvsp: ENST00000289749.2:c.162A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7650
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25591
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro19Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: QD

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.12032560132199e-5
allele num: 65356
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.48083e6

FS
type: SiteQuality
SIO_000300: 9.586e0

VQSLOD
type: SiteQuality
SIO_000300: -1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 9.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44316
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1827
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.073652566029633e-4
allele num: 9314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.573867967677999e-5
allele num: 65590
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

FS
type: SiteQuality
SIO_000300: 2.243e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 1.48814e6

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

GenotypeQuality
all individuals: 1823
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1029
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523136442562525e-5
allele num: 65654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.616e0

DP
type: SiteQuality
SIO_000300: 1.49063e6

FS
type: SiteQuality
SIO_000300: 2.415e0

MQ
type: SiteQuality
SIO_000300: 5.713e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 9.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

GenotypeQuality
all individuals: 1826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522116350573838e-5
allele num: 65698
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.751e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.533e1

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

VQSLOD
type: SiteQuality
SIO_000300: -4.16e-2

DP
type: SiteQuality
SIO_000300: 1.492445e6

GenotypeQuality
all individuals: 44722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.283e0

VQSLOD
type: SiteQuality
SIO_000300: -2.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.494375e6

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 6123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

African
type: Population
allele count: 6
allele frequency: 6.407518154634772e-4
allele num: 9364
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521097624045511e-5
allele num: 65742
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.494699e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44533
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 273
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1018
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.203759077317386e-4
allele num: 9364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 8.92e0

DP
type: SiteQuality
SIO_000300: 1.495729e6

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.288e0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6128
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.434052392977759e-4
allele num: 65734
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.268e1

FS
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.496729e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

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

GenotypeQuality
all individuals: 1801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522765341860819e-5
allele num: 65670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.745e1

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

DP
type: SiteQuality
SIO_000300: 1.495054e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.015e0

VQSLOD
type: SiteQuality
SIO_000300: -1.071e0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1787
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44443
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.16827041697508e-5
allele num: 16212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65554
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.491951e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.145e1

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

FS
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1778
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.12e0

DP
type: SiteQuality
SIO_000300: 1.489227e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.443e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 44292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526950679493052e-5
allele num: 65490
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.13e-2

QD
type: SiteQuality
SIO_000300: 1.075e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.489321e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.059e0

GenotypeQuality
all individuals: 5605
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.178411501296253e-4
allele num: 8486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.3e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.781e0

FS
type: SiteQuality
SIO_000300: 4.469e0

DP
type: SiteQuality
SIO_000300: 1.436385e6

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5315
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.133912062427528e-5
allele num: 63818
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.482e0

QD
type: SiteQuality
SIO_000300: 1.292e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.391706e6

FS
type: SiteQuality
SIO_000300: 1.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.237e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.43040362127499e-5
allele num: 63624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.374798e6

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 500
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6104
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variant carriers: 0

GenotypeQuality
all individuals: 3996
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variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.214771622934888e-4
allele num: 8232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.21858e6

FS
type: SiteQuality
SIO_000300: 3.039e0

VQSLOD
type: SiteQuality
SIO_000300: -8.996e-1

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3063
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62230
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8200
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.391409945033875e-5
allele num: 15646
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.26e-1

QD
type: SiteQuality
SIO_000300: 2.404e1

DP
type: SiteQuality
SIO_000300: 1.213199e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

VQSLOD
type: SiteQuality
SIO_000300: -1.347e0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 3.565e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.022e0

VQSLOD
type: SiteQuality
SIO_000300: -1.066e-1

DP
type: SiteQuality
SIO_000300: 1.194942e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

GenotypeQuality
all individuals: 1339
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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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.237623762376238e-4
allele num: 8080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15546
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.138e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.18709e6

QD
type: SiteQuality
SIO_000300: 1.625e1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.143e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6104
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.467e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 1.186203e6

VQSLOD
type: SiteQuality
SIO_000300: 1.92e-1

GenotypeQuality
all individuals: 641
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.258494840171155e-4
allele num: 7946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.548e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.469e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.469e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.94e0

MQ
type: SiteQuality
SIO_000300: 4.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.528e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 1.186911e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 490
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GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.143e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 2.72538e5

QD
type: SiteQuality
SIO_000300: 1.476e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 30

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 15
allele frequency: 9.29368029739777e-3
allele num: 1614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.659900421294523e-4
allele num: 5222
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 2.131060202450719e-3
allele num: 7508
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.92e-2

BaseQRankSum
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SIO_000300: -1.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

DP
type: SiteQuality
SIO_000300: 2.74087e5

QD
type: SiteQuality
SIO_000300: 1.354e1

GenotypeDepth
all individuals: 143
bin: 6.25e1
variant carriers: 4

GenotypeQuality
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bin: 9.75e1
variant carriers: 41

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 209
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GenotypeQuality
all individuals: 350
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
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African
type: Population
allele count: 38
allele frequency: 4.194260485651214e-2
allele num: 906
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.825554705432288e-4
allele num: 5228
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.03448275862069e-2
allele num: 290
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
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SIO_000300: 7.15e-1

InbreedingCoeff
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SIO_000300: -4.96e-2

QD
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SIO_000300: 1.346e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

DP
type: SiteQuality
SIO_000300: 2.77212e5

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 385
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GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 492
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 204
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

MQRankSum
type: SiteQuality
SIO_000300: -1.193e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

DP
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SIO_000300: 2.94214e5

ReadPosRankSum
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SIO_000300: 1.03e0

FS
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SIO_000300: 3.349e0

VQSLOD
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InbreedingCoeff
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SIO_000300: -5.06e-2

QD
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SIO_000300: 1.336e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.299e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 171
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.770739064856712e-4
allele num: 5304
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.784e0

VQSLOD
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SIO_000300: -1.327e0

InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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SIO_000300: -2.2e-1

MQRankSum
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SIO_000300: -1.68e-1

DP
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SIO_000300: 2.98994e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.698e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3
bin: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
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African
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allele frequency: 5.494505494505495e-3
allele num: 910
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.35e-2

FS
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SIO_000300: 4.986e0

BaseQRankSum
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SIO_000300: -1.0e0

ReadPosRankSum
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SIO_000300: 5.34e-1

DP
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SIO_000300: 3.07902e5

MQRankSum
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SIO_000300: 3.63e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

VQSLOD
type: SiteQuality
SIO_000300: -9.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6
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GenotypeQuality
all individuals: 111
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

South Asian
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allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.56e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

QD
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SIO_000300: 7.81e0

BaseQRankSum
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FS
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DP
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SIO_000300: 3.18872e5

VQSLOD
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SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 492
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 1.04384133611691e-3
allele num: 7664
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.682242990654206e-3
allele num: 5350
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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African
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VQSLOD
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SIO_000300: 1.4e0

ReadPosRankSum
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MQRankSum
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MQ
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Other
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African
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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DP
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 5.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
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SIO_000300: -8.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -5.5e-1

ReadPosRankSum
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SIO_000300: -5.5e-1

VQSLOD
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SIO_000300: -2.261e0

DP
type: SiteQuality
SIO_000300: 3.44739e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 6.75e1
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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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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

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

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

African
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allele frequency: 1.091703056768559e-3
allele num: 916
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.50243e5

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

MQ
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SIO_000300: 5.95e1

ClippingRankSum
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SIO_000300: -1.851e0

InbreedingCoeff
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SIO_000300: -8.160000000000001e-2

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.112e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.305142260506395e-4
allele num: 7662
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.51667e5

BaseQRankSum
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SIO_000300: -3.664e0

VQSLOD
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SIO_000300: -2.935e0

MQRankSum
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SIO_000300: 2.24e0

InbreedingCoeff
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SIO_000300: -8.15e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 5.92e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 2.610966057441253e-4
allele num: 7660
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.14e-2

BaseQRankSum
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SIO_000300: 8.999999999999999e-3

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 6.36e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 3.55791e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.305483028720627e-4
allele num: 7660
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

BaseQRankSum
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MQ
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SIO_000300: 5.916e1

QD
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ClippingRankSum
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SIO_000300: 4.56e-1

FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: -2.62e-1

InbreedingCoeff
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SIO_000300: -8.05e-2

DP
type: SiteQuality
SIO_000300: 3.61167e5

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5376
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Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 7654
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ClippingRankSum
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SIO_000300: -2.8e-2

ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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SIO_000300: 5.928e1

VQSLOD
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DP
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FS
type: SiteQuality
SIO_000300: 1.247e0

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 920
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 5376
num of homozygotes: 0

European (Finnish)
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Other
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East Asian
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Latino
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South Asian
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.313370107696349e-4
allele num: 7614
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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MQRankSum
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ClippingRankSum
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QD
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DP
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 5578
num of homozygotes: 0

South Asian
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East Asian
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Latino
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African
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European (Non-Finnish)
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allele num: 60420
num of homozygotes: 0

Other
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 5604
num of homozygotes: 0

African
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allele num: 9324
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 60588
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Latino
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Other
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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European (Non-Finnish)
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African
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East Asian
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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Other
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East Asian
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European (Finnish)
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allele frequency: 1.757469244288225e-4
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BaseQRankSum
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MQ
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VQSLOD
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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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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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African
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allele num: 9536
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European (Finnish)
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Other
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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South Asian
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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
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.625012187591407e-5
allele num: 61538
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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South Asian
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East Asian
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African
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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African
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East Asian
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Latino
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South Asian
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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European (Non-Finnish)
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.309788931361143e-5
allele num: 12034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.004811547714515e-4
allele num: 9976
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.317917614354308e-5
allele num: 63312
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.403392e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: 7.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.084e1

GenotypeDepth
all individuals: 28661
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4489
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6117
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1230
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.768853034023149e-5
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.890776163615164e-4
allele num: 63466
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 1.406673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 1.103e0

QD
type: SiteQuality
SIO_000300: 1.062e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 556
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 12
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43201
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.75e1
variant carriers: 62

African
type: Population
allele count: 63
allele frequency: 6.276150627615063e-3
allele num: 10038
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.619628162145687e-5
allele num: 13124
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.126e0

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.926e0

QD
type: SiteQuality
SIO_000300: 1.073e1

DP
type: SiteQuality
SIO_000300: 1.414513e6

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

GenotypeDepth
all individuals: 3392
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 832
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4018
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6133
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.432733759476735e-5
allele num: 13454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.417057e6

VQSLOD
type: SiteQuality
SIO_000300: -4.249e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.097e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

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

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3952
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 658
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 282
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.350779182593354e-5
allele num: 13604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 1.41761e6

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

GenotypeDepth
all individuals: 3012
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43794
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 277
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64086
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.940357852882704e-5
allele num: 10060
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

QD
type: SiteQuality
SIO_000300: 3.74e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.663e0

DP
type: SiteQuality
SIO_000300: 1.423409e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 995
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 5.25e1
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GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64162
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.775008775008775e-5
allele num: 11396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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FS
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DP
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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African
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South Asian
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Other
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European (Finnish)
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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European (Finnish)
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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QD
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15768
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.394485e6

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 6.054e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.288e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

GenotypeDepth
all individuals: 155
bin: 4.75e1
variant carriers: 32

GenotypeDepth
all individuals: 3594
bin: 3.25e1
variant carriers: 42

GenotypeDepth
all individuals: 258
bin: 4.25e1
variant carriers: 26

GenotypeDepth
all individuals: 19397
bin: 2.75e1
variant carriers: 62

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 365
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1034
bin: 2.5e0
variant carriers: 7

GenotypeQuality
all individuals: 943
bin: 7.75e1
variant carriers: 14

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1265
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 1381
bin: 3.25e1
variant carriers: 16

GenotypeQuality
all individuals: 379
bin: 9.75e1
variant carriers: 204

GenotypeQuality
all individuals: 327
bin: 1.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1400
bin: 2.75e1
variant carriers: 20

GenotypeQuality
all individuals: 569
bin: 4.25e1
variant carriers: 13

GenotypeQuality
all individuals: 1049
bin: 3.75e1
variant carriers: 26

GenotypeQuality
all individuals: 378
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 5176
bin: 2.25e1
variant carriers: 18

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 13

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1053
bin: 5.25e1
variant carriers: 15

GenotypeQuality
all individuals: 825
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 5124
bin: 6.75e1
variant carriers: 18

GenotypeQuality
all individuals: 38005
bin: 6.25e1
variant carriers: 18

GenotypeQuality
all individuals: 855
bin: 4.75e1
variant carriers: 17

East Asian
type: Population
allele count: 9
allele frequency: 1.075011944577162e-3
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 281
allele frequency: 4.545895751771443e-3
allele num: 61814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.705591479650057e-4
allele num: 5258
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.82882223847842e-4
allele num: 10936
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.237623762376238e-3
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

African
type: Population
allele count: 144
allele frequency: 1.586602027324813e-2
allele num: 9076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

FS
type: SiteQuality
SIO_000300: 1.67292e2

QD
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.325e2

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e0

DP
type: SiteQuality
SIO_000300: 1.394973e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.693e0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 460
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 313
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5962
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1099
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.376990729736154e-4
allele num: 8414
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.277683134582623e-3
allele num: 9392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.598261091931978e-4
allele num: 62568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15706
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.74e0