20-2637204-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637204
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637204
    reference: chr 20
allele count: 3
allele frequency: 2.50505185457339e-5
allele num: 119758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+9G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+9G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+9G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+9G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+9G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+9G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+9G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+9G>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

20-2637205-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637205
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637205
    reference: chr 20
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+10G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+10G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+10G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+10G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+10G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+10G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+10G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+10G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

20-2637205-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637205
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637205
    reference: chr 20
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+10G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+10G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+10G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+10G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+10G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+10G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+10G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+10G>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

20-2637206-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637206
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637206
    reference: chr 20
allele count: 7
allele frequency: 5.814629608093964e-5
allele num: 120386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+11G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+11G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+11G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+11G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+11G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+11G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+11G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+11G>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4078
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

20-2637210-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637210
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637210
    reference: chr 20
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+15G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+15G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+15G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+15G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+15G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+15G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+15G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+15G>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

20-2637212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637212
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637212
    reference: chr 20
allele count: 6
allele frequency: 4.993342210386152e-5
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+17G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+17G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+17G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+17G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+17G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+17G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+17G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+17G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

20-2637213-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637213
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637213
    reference: chr 20
allele count: 1
allele frequency: 8.321959988016378e-6
allele num: 120164
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+18T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+18T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+18T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+18T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+18T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+18T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+18T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+18T>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

20-2637218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637218
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637218
    reference: chr 20
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+23A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+23A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+23A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+23A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+23A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+23A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+23A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+23A>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-2637222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637222
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637222
    reference: chr 20
allele count: 127
allele frequency: 1.058933395590835e-3
allele num: 119932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+27G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+27G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+27G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+27G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+27G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+27G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+27G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+27G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8656
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 2
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

20-2637230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637230
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637230
    reference: chr 20
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+35G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+35G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+35G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+35G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+35G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+35G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+35G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+35G>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

20-2637231-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637231
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637231
    reference: chr 20
allele count: 1
allele frequency: 8.373105584861425e-6
allele num: 119430
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+36G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+36G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+36G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+36G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+36G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+36G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+36G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+36G>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30160
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

20-2637236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637236
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637236
    reference: chr 20
allele count: 1
allele frequency: 8.368761088608442e-6
allele num: 119492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+41G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+41G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+41G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+41G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+41G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+41G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+41G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+41G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

20-2637237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637237
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637237
    reference: chr 20
allele count: 142
allele frequency: 1.188324295373904e-3
allele num: 119496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+42G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+42G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+42G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+42G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+42G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+42G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+42G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+42G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30189
  bin: 9.75e1
  variant carriers: 141
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

20-2637246-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637246
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637246
    reference: chr 20
allele count: 3
allele frequency: 2.535154137371552e-5
allele num: 118336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+51T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+51T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+51T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+51T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+51T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+51T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+51T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+51T>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-2637247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637247
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637247
    reference: chr 20
allele count: 1
allele frequency: 8.382791804982731e-6
allele num: 119292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+52G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+52G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+52G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+52G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+52G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+52G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+52G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+52G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

20-2637247-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637247
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637247
    reference: chr 20
allele count: 113
allele frequency: 9.472554739630486e-4
allele num: 119292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+52G>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6033
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

20-2637264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637264
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637264
    reference: chr 20
allele count: 3
allele frequency: 2.516905213349665e-5
allele num: 119194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+69T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+69T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+69T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+69T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+69T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+69T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+69T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+69T>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

20-2637268-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637268
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637268
    reference: chr 20
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+73T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+73T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+73T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+73T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+73T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+73T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+73T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+73T>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

20-2637270-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637270
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637270
    reference: chr 20
allele count: 9
allele frequency: 7.552489804138765e-5
allele num: 119166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+75C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+75C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+75C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+75C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+75C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.1C>G
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+75C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+75C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+75C>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/20-2637271-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637271
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637271
    reference: chr 20
allele count: 1
allele frequency: 8.392500461587526e-6
allele num: 119154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+76C>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+76C>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.2C>A
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+76C>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+76C>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+76C>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+76C>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+76C>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+76C>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30086
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

20-2637274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637274
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637274
    reference: chr 20
allele count: 2
allele frequency: 1.679148335963999e-5
allele num: 119108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+79A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.5A>G
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+79A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+79A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+79A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+79A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+79A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+79A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+79A>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

20-2637281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637281
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637281
    reference: chr 20
allele count: 20
allele frequency: 1.678838243935197e-4
allele num: 119130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.12G>A
  variant of: http://identifiers.org/hgnc/10206
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30088
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

20-2637283-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637283
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637281
    reference: chr 20
allele count: 2
allele frequency: 1.678162076893386e-5
allele num: 119178
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.17_18delAT
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+91_149+92delAT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+91_253+92delAT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+91_479+92delAT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+91_140+92delAT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+91_391+92delAT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+91_381+92delAT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+91_1159+92delAT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+91_418+92delAT
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30078
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: AAT
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

20-2637289-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637289
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637289
    reference: chr 20
allele count: 1
allele frequency: 8.390106386548982e-6
allele num: 119188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+94T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.4T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+94T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+94T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+94T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+94T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+94T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+94T>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.20T>C
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+94T>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

20-2637293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637293
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637293
    reference: chr 20
allele count: 2
allele frequency: 1.678697330871244e-5
allele num: 119140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.8G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+98G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+98G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+98G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+98G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+98G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+98G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+98G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+98G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.24G>A
  variant of: http://identifiers.org/hgnc/10206
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

20-2637297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637297
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637297
    reference: chr 20
allele count: 2
allele frequency: 1.678218403343011e-5
allele num: 119174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+102A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+102A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+102A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+102A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+102A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.12A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+102A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.28A>G
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+102A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+102A>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

20-2637304-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637304
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637304
    reference: chr 20
allele count: 1
allele frequency: 8.381246123673667e-6
allele num: 119314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.381+109T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.140+109T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.391+109T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.479+109T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.35T>A
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.253+109T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.149+109T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.418+109T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.19T>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1159+109T>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

20-2637309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637309
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637309
    reference: chr 20
allele count: 7
allele frequency: 5.863432285733431e-5
allele num: 119384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-111C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-111C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-111C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-111C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.40C>T
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-111C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-111C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-111C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-111C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.24C>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-2637313-TGAGTGTTGAGACTCTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637313
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637297
    reference: chr 20
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: TGAGTGTTGAGACTCTG
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

20-2637321-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637321
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637321
    reference: chr 20
allele count: 5
allele frequency: 4.177528240090903e-5
allele num: 119688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-99G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-99G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-99G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.36G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-99G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.52G>C
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-99G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-99G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-99G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-99G>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

20-2637322-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637322
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637321
    reference: chr 20
allele count: 1
allele frequency: 8.352404657300837e-6
allele num: 119726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-97delG
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-97delG
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-97delG
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-97delG
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-97delG
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-97delG
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-97delG
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.54delG
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.38delG
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-97delG
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 8.25e1
  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: AG
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/20-2637324-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637324
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637324
    reference: chr 20
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-96A>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-96A>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.39A>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-96A>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-96A>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-96A>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.55A>C
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-96A>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-96A>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-96A>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

20-2637324-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637324
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637322
    reference: chr 20
allele count: 2
allele frequency: 1.670118244371702e-5
allele num: 119752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.42_43delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.58_59delCT
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-93_480-92delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-93_150-92delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-93_382-92delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-93_1160-92delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-93_254-92delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-93_392-92delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-93_141-92delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-93_419-92delCT
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: ACT
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

20-2637325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637325
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637325
    reference: chr 20
allele count: 2
allele frequency: 1.669895130585799e-5
allele num: 119768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-95C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-95C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.40C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.56C>T
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-95C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-95C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-95C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-95C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-95C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-95C>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

20-2637327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637327
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637327
    reference: chr 20
allele count: 2
allele frequency: 1.669142561466175e-5
allele num: 119822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-93C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-93C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-93C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-93C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-93C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.42C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.58C>T
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-93C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-93C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-93C>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

20-2637329-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637329
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637329
    reference: chr 20
allele count: 1
allele frequency: 8.342231713828083e-6
allele num: 119872
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.60G>C
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-91G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-91G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-91G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.44G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-91G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-91G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-91G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-91G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-91G>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

20-2637331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637331
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637331
    reference: chr 20
allele count: 1
allele frequency: 8.339309838717748e-6
allele num: 119914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000229686
  ensembl transcript: ENST00000413522
  gene symbol: SNORD56
  hgvsc: ENST00000413522.1:n.62G>A
  variant of: http://identifiers.org/hgnc/10206
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-89G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-89G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-89G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-89G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.46G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-89G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-89G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-89G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-89G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

20-2637347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637347
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637347
    reference: chr 20
allele count: 8
allele frequency: 6.643525054393862e-5
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-73G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-73G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-73G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-73G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-73G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-73G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.62G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-73G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-73G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

20-2637363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637363
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637363
    reference: chr 20
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-57G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-57G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.78G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-57G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-57G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-57G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-57G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-57G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-57G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

20-2637368-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637368
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637368
    reference: chr 20
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.83G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-52G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-52G>C
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30058
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

20-2637371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637371
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637371
    reference: chr 20
allele count: 11
allele frequency: 9.075907590759076e-5
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.86G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-49G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-49G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-49G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-49G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-49G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-49G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-49G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-49G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8333
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS

20-2637376-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637376
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637374
    reference: chr 20
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.97_98delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-38_150-37delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-38_382-37delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-38_141-37delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-38_254-37delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-38_480-37delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-38_419-37delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-38_392-37delCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-38_1160-37delCT
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: TTC
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

20-2637380-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637380
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637380
    reference: chr 20
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-40C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-40C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-40C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.95C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-40C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-40C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-40C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-40C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-40C>G
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

20-2637380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637380
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637380
    reference: chr 20
allele count: 2
allele frequency: 1.648967746190884e-5
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-40C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-40C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.95C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-40C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-40C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-40C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-40C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-40C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-40C>T
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

20-2637391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637391
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637391
    reference: chr 20
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.106G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-29G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-29G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-29G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-29G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-29G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-29G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-29G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-29G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

20-2637391-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637391
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637391
    reference: chr 20
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-29G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-29G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-29G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-29G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.106G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-29G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-29G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-29G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-29G>C
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

20-2637391-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637391
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637391
    reference: chr 20
allele count: 3
allele frequency: 2.472636159831201e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-29G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-29G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-29G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-29G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.106G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-29G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-29G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-29G>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-29G>T
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

20-2637397-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637397
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637398
    reference: chr 20
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-20dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-20dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.115dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-20dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-20dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-20dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-20dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-20dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-20dupT
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

20-2637399-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637399
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637399
    reference: chr 20
allele count: 4
allele frequency: 3.295924589245398e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-21T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-21T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-21T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-21T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-21T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-21T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-21T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.114T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-21T>G
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

20-2637406-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637406
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637406
    reference: chr 20
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-14C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-14C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-14C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-14C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-14C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.121C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-14C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-14C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-14C>G
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-2637407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637407
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637407
    reference: chr 20
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.419-13C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.122C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.141-13C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.254-13C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.150-13C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.480-13C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1160-13C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.392-13C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.382-13C>T
  variant of: http://identifiers.org/hgnc/15911
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

20-2637427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637427
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637427
    reference: chr 20
allele count: 284
allele frequency: 2.339528140239884e-3
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.426C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.399C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.389C>T
  hgvsp: ENST00000415272.1:c.389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1167C>T
  hgvsp: ENST00000329276.5:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.157C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.148C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.487C>T
  hgvsp: ENST00000467196.1:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.142C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.261C>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 6.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 8307
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 9.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro389Pro
num of homozygotes: 4
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

20-2637430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637430
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637430
    reference: chr 20
allele count: 22
allele frequency: 1.812310531171741e-4
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.429G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1170G>A
  hgvsp: ENST00000329276.5:c.1170G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.402G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.145G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.151G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.490G>A
  hgvsp: ENST00000467196.1:c.490G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.392G>A
  hgvsp: ENST00000415272.1:c.392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.160G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.264G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30038
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr390Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

20-2637436-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637436
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637437
    reference: chr 20
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.272dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.168dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.410dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.153dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.498dupT
  hgvsp: ENSP00000434317.1:p.Gly168ArgfsTer9
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1178dupT
  hgvsp: ENSP00000370589.3:p.Gly394ArgfsTer9
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.159dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.437dupT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.400dupT
  hgvsp: ENSP00000403199.1:p.Gly135ArgfsTer9
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly394ArgfsTer9
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-2637436-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637436
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637436
    reference: chr 20
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.151A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.496A>G
  hgvsp: ENST00000467196.1:c.496A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.398A>G
  hgvsp: ENST00000415272.1:c.398A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1176A>G
  hgvsp: ENST00000329276.5:c.1176A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.408A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.435A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.157A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.270A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.166A>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val392Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

20-2637439-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637439
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637439
    reference: chr 20
allele count: 7
allele frequency: 5.766537606063102e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.169C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.273C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.411C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.154C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1179C>T
  hgvsp: ENST00000329276.5:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.401C>T
  hgvsp: ENST00000415272.1:c.401C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.499C>T
  hgvsp: ENST00000467196.1:c.499C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.160C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.438C>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8624
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe393Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-2637440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637440
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637440
    reference: chr 20
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.170G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.161G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.412G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.439G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.274G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.500G>A
  hgvsp: ENSP00000434317.1:p.Gly168Arg
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1180G>A
  hgvsp: ENSP00000370589.3:p.Gly394Arg
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.402G>A
  hgvsp: ENSP00000403199.1:p.Gly135Arg
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.155G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4040
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly394Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

20-2637443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637443
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637443
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.277G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.173G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.503G>A
  hgvsp: ENSP00000434317.1:p.Glu169Lys
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.158G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1183G>A
  hgvsp: ENSP00000370589.3:p.Glu395Lys
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.405G>A
  hgvsp: ENSP00000403199.1:p.Glu136Lys
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.442G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.164G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.415G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu395Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

20-2637445-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637445
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637445
    reference: chr 20
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.160G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.407G>C
  hgvsp: ENSP00000403199.1:p.Glu136Asp
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.505G>C
  hgvsp: ENSP00000434317.1:p.Glu169Asp
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.175G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1185G>C
  hgvsp: ENSP00000370589.3:p.Glu395Asp
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.444G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.279G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.417G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.166G>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu395Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

20-2637448-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637448
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637448
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1188G>C
  hgvsp: ENSP00000370589.3:p.Lys396Asn
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.178G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.508G>C
  hgvsp: ENSP00000434317.1:p.Lys170Asn
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.169G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.163G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.447G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.282G>C
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.410G>C
  hgvsp: ENSP00000403199.1:p.Lys137Asn
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.420G>C
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys396Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

20-2637449-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637449
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637449
    reference: chr 20
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.283C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.164C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.509C>G
  hgvsp: ENSP00000434317.1:p.Leu171Val
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1189C>G
  hgvsp: ENSP00000370589.3:p.Leu397Val
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.421C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.448C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.411C>G
  hgvsp: ENSP00000403199.1:p.Leu138Val
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.170C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.179C>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu397Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

20-2637449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637449
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637449
    reference: chr 20
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.164C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.421C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.283C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.411C>T
  hgvsp: ENSP00000403199.1:p.Leu138Phe
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.509C>T
  hgvsp: ENSP00000434317.1:p.Leu171Phe
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.179C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.170C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.448C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1189C>T
  hgvsp: ENSP00000370589.3:p.Leu397Phe
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu397Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

20-2637453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637453
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637453
    reference: chr 20
allele count: 5
allele frequency: 4.118616144975288e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.287G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.168G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1193G>A
  hgvsp: ENSP00000370589.3:p.Arg398Gln
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.415G>A
  hgvsp: ENSP00000403199.1:p.Arg139Gln
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.183G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.452G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.425G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.513G>A
  hgvsp: ENSP00000434317.1:p.Arg172Gln
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.174G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg398Gln
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-2637471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637471
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637471
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.433G>A
  hgvsp: ENSP00000403199.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.443G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.305G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.531G>A
  hgvsp: ENSP00000434317.1:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.192G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1211G>A
  hgvsp: ENSP00000370589.3:p.Arg404Gln
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.201G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.470G>A
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.186G>A
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg404Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-2637472-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637472
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637472
    reference: chr 20
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.306A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.471A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.193A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.532A>G
  hgvsp: ENST00000467196.1:c.532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.187A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1212A>G
  hgvsp: ENST00000329276.5:c.1212A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.444A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.434A>G
  hgvsp: ENST00000415272.1:c.434A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.202A>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg404Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-2637473-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637473
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637473
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1213C>G
  hgvsp: ENSP00000370589.3:p.Leu405Val
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.472C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.188C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.203C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.194C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.445C>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.435C>G
  hgvsp: ENSP00000403199.1:p.Leu146Val
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.533C>G
  hgvsp: ENSP00000434317.1:p.Leu179Val
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.307C>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu405Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

20-2637473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637473
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637473
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.533C>T
  hgvsp: ENST00000467196.1:c.533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.435C>T
  hgvsp: ENST00000415272.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.188C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.203C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1213C>T
  hgvsp: ENST00000329276.5:c.1213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.307C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.472C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.194C>T
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.445C>T
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8990
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu405Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

20-2637477-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637477
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637474
    reference: chr 20
allele count: 6
allele frequency: 4.942176534545814e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.452_454delTCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.479_481delTCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.201_203delTCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.442_444delTCT
  hgvsp: ENSP00000403199.1:p.Phe148del
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.314_316delTCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.210_212delTCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.195_197delTCT
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1220_1222delTCT
  hgvsp: ENSP00000370589.3:p.Phe407del
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.540_542delTCT
  hgvsp: ENSP00000434317.1:p.Phe181del
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe407del
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CCTT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

20-2637483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637483
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637483
    reference: chr 20
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.482A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.198A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.455A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.204A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.213A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.445A>G
  hgvsp: ENSP00000403199.1:p.Tyr149Cys
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.543A>G
  hgvsp: ENSP00000434317.1:p.Tyr182Cys
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.317A>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1223A>G
  hgvsp: ENSP00000370589.3:p.Tyr408Cys
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr408Cys
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

20-2637490-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2637490
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 2637490
    reference: chr 20
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000490753
  gene symbol: NOP56
  hgvsc: ENST00000490753.1:n.220T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000471023
  gene symbol: NOP56
  hgvsc: ENST00000471023.1:n.211T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000403199
  ensembl transcript: ENST00000415272
  gene symbol: NOP56
  hgvsc: ENST00000415272.1:c.452T>G
  hgvsp: ENST00000415272.1:c.452T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000492135
  gene symbol: NOP56
  hgvsc: ENST00000492135.1:n.489T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000434317
  ensembl transcript: ENST00000467196
  gene symbol: NOP56
  hgvsc: ENST00000467196.1:c.550T>G
  hgvsp: ENST00000467196.1:c.550T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101361
  ensembl protein: ENSP00000370589
  ensembl transcript: ENST00000329276
  gene symbol: NOP56
  hgvsc: ENST00000329276.5:c.1230T>G
  hgvsp: ENST00000329276.5:c.1230T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000466447
  gene symbol: NOP56
  hgvsc: ENST00000466447.1:n.324T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000462630
  gene symbol: NOP56
  hgvsc: ENST00000462630.1:n.205T>G
  variant of: http://identifiers.org/hgnc/15911
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101361
  ensembl transcript: ENST00000480447
  gene symbol: NOP56
  hgvsc: ENST00000480447.1:n.462T>G
  variant of: http://identifiers.org/hgnc/15911
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30031
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr410Thr
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 6716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2582
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30123
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4092
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524297298945186e-5
allele num: 65604
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

DP
type: SiteQuality
SIO_000300: 2.699247e6

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

FS
type: SiteQuality
SIO_000300: 1.724e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4075
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66128
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.934432743890324e-5
allele num: 10066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.876e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

QD
type: SiteQuality
SIO_000300: 1.675e1

FS
type: SiteQuality
SIO_000300: 1.2069e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 2.687015e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66128
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10066
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.876e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

DP
type: SiteQuality
SIO_000300: 2.687015e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

FS
type: SiteQuality
SIO_000300: 1.2069e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.675e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-4
allele num: 66140
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

FS
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.878e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 2.686422e6

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6579
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.972078181092939e-5
allele num: 10028
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66088
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.46e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.68285e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4075
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66032
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.733402669440111e-4
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.680721e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.748e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.392e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514279657167086e-5
allele num: 66038
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.522e1

MQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.562e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.680359e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65952
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.055e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 2.677426e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 6.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 124

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: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42600679281902e-4
allele num: 16488
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 122
allele frequency: 1.421248835041939e-2
allele num: 8584
num of homozygotes: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65914
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.676851e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.144e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.984e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

DP
type: SiteQuality
SIO_000300: 2.668444e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
bin: 1.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523461304082876e-5
allele num: 65640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

MQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.665136e6

FS
type: SiteQuality
SIO_000300: 8.34e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 30163
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522487134983709e-5
allele num: 65682
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

FS
type: SiteQuality
SIO_000300: 2.913e0

VQSLOD
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 5.788e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.523e0

DP
type: SiteQuality
SIO_000300: 2.664413e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

GenotypeQuality
all individuals: 4004
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.12610211195407e-4
allele num: 9754
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 108
allele frequency: 1.644436323771241e-3
allele num: 65676
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.16976219406353e-3
allele num: 11522
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.058770069675856e-4
allele num: 6602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 1.094e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e0

DP
type: SiteQuality
SIO_000300: 2.665467e6

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.613964933866502e-5
allele num: 65020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.656544e6

QD
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.195e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 8.0729e1

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.276e0

GenotypeQuality
all individuals: 1469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30167
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 4005
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525739220652406e-5
allele num: 65542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

DP
type: SiteQuality
SIO_000300: 2.653394e6

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
all individuals: 3884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30167
bin: 9.75e1
variant carriers: 111

GenotypeQuality
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bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 2560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2585
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.605071205279611e-4
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 109
allele frequency: 1.122091826230183e-2
allele num: 9714
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525739220652406e-5
allele num: 65542
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

QD
type: SiteQuality
SIO_000300: 1.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 2.653394e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 3890
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4108
bin: 9.25e1
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GenotypeQuality
all individuals: 164
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.03498240529911e-4
allele num: 9662
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.649217e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.476e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
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bin: 5.75e1
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
all individuals: 30091
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GenotypeQuality
all individuals: 355
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527370478983382e-5
allele num: 65472
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.313e1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.649382e6

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
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GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.461165048543689e-4
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65466
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.99e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

FS
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

DP
type: SiteQuality
SIO_000300: 2.649431e6

GenotypeQuality
all individuals: 3952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.25e1
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GenotypeQuality
all individuals: 4008
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GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
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GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 4106
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GenotypeQuality
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GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 6584
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variant carriers: 0

GenotypeQuality
all individuals: 2574
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GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.035840066293764e-4
allele num: 9654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 6.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.075e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 2.64902e6

GenotypeQuality
all individuals: 362
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30085
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528397627926881e-5
allele num: 65428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.374000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 2.648974e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.316e0

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3893
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.221702525724976e-3
allele num: 8552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65440
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.648e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

DP
type: SiteQuality
SIO_000300: 2.649977e6

GenotypeQuality
all individuals: 332
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4010
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 6691
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 145
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 2600
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variant carriers: 0

GenotypeQuality
all individuals: 2580
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variant carriers: 0

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

GenotypeQuality
all individuals: 4106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.036484245439469e-4
allele num: 9648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527603800678256e-5
allele num: 65462
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

MQ
type: SiteQuality
SIO_000300: 6.038e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.158e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 8.182e0

DP
type: SiteQuality
SIO_000300: 2.649426e6

QD
type: SiteQuality
SIO_000300: 1.832e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

GenotypeQuality
all individuals: 3900
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30077
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 319
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4008
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
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variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 2.649581e6

FS
type: SiteQuality
SIO_000300: 7.52e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30077
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1342
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4008
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528023959415684e-5
allele num: 65444
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 4.283e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.642e0

DP
type: SiteQuality
SIO_000300: 2.650248e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

QD
type: SiteQuality
SIO_000300: 1.08e1

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30076
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.055394298634239e-5
allele num: 65458
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 2.651129e6

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

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30075
bin: 9.75e1
variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525739220652406e-5
allele num: 65542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.652875e6

VQSLOD
type: SiteQuality
SIO_000300: -4.784e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.924e0

QD
type: SiteQuality
SIO_000300: 1.179e1

FS
type: SiteQuality
SIO_000300: 8.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 5.86e1

GenotypeQuality
all individuals: 7035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3907
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variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30078
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.066909343040389e-4
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

QD
type: SiteQuality
SIO_000300: 1.162e1

FS
type: SiteQuality
SIO_000300: 1.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 2.654503e6

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523832744118006e-5
allele num: 65624
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.31e0

MQ
type: SiteQuality
SIO_000300: 5.575e1

QD
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 8.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.552e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -4.982e0

DP
type: SiteQuality
SIO_000300: 2.655549e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 2600
bin: 8.75e1
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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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: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.042380358392406e-5
allele num: 65738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.539951573849879e-4
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 5.928e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 2.658528e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52077376969402e-5
allele num: 65756
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.950000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.547e0

QD
type: SiteQuality
SIO_000300: 1.225e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

FS
type: SiteQuality
SIO_000300: 1.3635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

DP
type: SiteQuality
SIO_000300: 2.659011e6

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 2.659719e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

FS
type: SiteQuality
SIO_000300: 5.428e0

QD
type: SiteQuality
SIO_000300: 1.495e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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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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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520496289989052e-5
allele num: 65768
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.495e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 2.659719e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 5.428e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

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: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.45e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

FS
type: SiteQuality
SIO_000300: 2.464e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 2.659683e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.117e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65802
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.322880371660859e-4
allele num: 8610
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.660454e6

QD
type: SiteQuality
SIO_000300: 1.202e1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518971959777622e-5
allele num: 65834
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.253e0

DP
type: SiteQuality
SIO_000300: 2.661187e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 7.035e0

MQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

QD
type: SiteQuality
SIO_000300: 8.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518556763651825e-5
allele num: 65852
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 1.3457e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

DP
type: SiteQuality
SIO_000300: 2.662526e6

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.334e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.147e0

VQSLOD
type: SiteQuality
SIO_000300: -2.352e0

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.84613520717228e-4
allele num: 16508
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.94e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

DP
type: SiteQuality
SIO_000300: 2.670639e6

GenotypeQuality
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bin: 8.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.678269e6

MQ
type: SiteQuality
SIO_000300: 5.803e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 4.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.439e0

QD
type: SiteQuality
SIO_000300: 1.795e1

VQSLOD
type: SiteQuality
SIO_000300: -1.424e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.198e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.793e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

FS
type: SiteQuality
SIO_000300: 1.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -2.023e0

DP
type: SiteQuality
SIO_000300: 2.679492e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

GenotypeQuality
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variant carriers: 11

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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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.654373431164317e-4
allele num: 10358
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.23e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.06e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.268e1

DP
type: SiteQuality
SIO_000300: 2.680437e6

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -1.167e0

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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bin: 9.75e1
variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
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African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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South Asian
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
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Other
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Latino
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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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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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African
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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South Asian
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allele num: 16512
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Latino
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num of homozygotes: 0

DP
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MQRankSum
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Latino
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allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66702
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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num of homozygotes: 0

East Asian
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10404
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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DP
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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FS
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Latino
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African
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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Other
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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VQSLOD
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MQRankSum
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SIO_000300: 1.93e0

FS
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DP
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ReadPosRankSum
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SIO_000300: 1.3e0

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

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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ClippingRankSum
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SIO_000300: -1.39e-1

BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.324e0

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

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

African
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allele frequency: 4.804920238324044e-4
allele num: 10406
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East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16512
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

ReadPosRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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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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Other
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European (Non-Finnish)
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Latino
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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ClippingRankSum
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MQ
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

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

African
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European (Finnish)
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East Asian
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allele num: 8654
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
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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
allele num: 16512
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.994305409860632e-5
allele num: 66730
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
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FS
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QD
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BaseQRankSum
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
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MQRankSum
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VQSLOD
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DP
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -2.035e0

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

Latino
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allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

BaseQRankSum
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FS
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SIO_000300: 3.72e0

MQRankSum
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DP
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 8.0e-4

MQ
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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num of homozygotes: 0

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

European (Finnish)
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East Asian
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FS
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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South Asian
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European (Finnish)
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ClippingRankSum
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FS
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 66734
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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QD
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